| Year |
Citation |
Score |
| 2023 |
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, ... ... Timmerman V, et al. Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain : a Journal of Neurology. PMID 37769650 DOI: 10.1093/brain/awad328 |
0.405 |
|
| 2023 |
Bremer J, Meinhardt A, Katona I, Senderek J, Kämmerer-Gassler EK, Roos A, Ferbert A, Schröder JM, Nikolin S, Nolte K, Sellhaus B, Popzhelyazkova K, Tacke F, Schara-Schmidt U, Neuen-Jacob E, ... ... Timmerman V, et al. Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort. Brain Pathology (Zurich, Switzerland). e13200. PMID 37581289 DOI: 10.1111/bpa.13200 |
0.331 |
|
| 2023 |
Ermanoska B, Asselbergh B, Morant L, Petrovic-Erfurth ML, Hosseinibarkooie S, Leitão-Gonçalves R, Almeida-Souza L, Bervoets S, Sun L, Lee L, Atkinson D, Khanghahi A, Tournev I, Callaerts P, Verstreken P, ... ... Timmerman V, et al. Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling. Nature Communications. 14: 999. PMID 36890170 DOI: 10.1038/s41467-023-35908-3 |
0.783 |
|
| 2023 |
Tedesco B, Vendredy L, Adriaenssens E, Cozzi M, Asselbergh B, Crippa V, Cristofani R, Rusmini P, Ferrari V, Casarotto E, Chierichetti M, Mina F, Pramaggiore P, Galbiati M, Piccolella M, ... ... Timmerman V, et al. HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies. Autophagy. 1-23. PMID 36854646 DOI: 10.1080/15548627.2023.2179780 |
0.314 |
|
| 2022 |
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, ... ... Timmerman V, et al. De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 35150594 DOI: 10.1002/mds.28959 |
0.433 |
|
| 2021 |
Van Lent J, Verstraelen P, Asselbergh B, Adriaenssens E, Mateiu L, Verbist C, De Winter V, Eggermont K, Van Den Bosch L, De Vos WH, Timmerman V. Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction. Brain : a Journal of Neurology. PMID 34128983 DOI: 10.1093/brain/awab226 |
0.384 |
|
| 2021 |
Reid Alderson T, Adriaenssens E, Asselbergh B, Pritišanac I, Van Lent J, Gastall HY, Wälti MA, Louis JM, Timmerman V, Baldwin AJ, Lp Benesch J. A weakened interface in the P182L variant of HSP27 associated with severe Charcot-Marie-Tooth neuropathy causes aberrant binding to interacting proteins. The Embo Journal. e103811. PMID 33644875 DOI: 10.15252/embj.2019103811 |
0.369 |
|
| 2020 |
Adriaenssens E, Tedesco B, Mediani L, Asselbergh B, Crippa V, Antoniani F, Carra S, Poletti A, Timmerman V. BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes. Scientific Reports. 10: 8755. PMID 32472079 DOI: 10.1038/S41598-020-65664-Z |
0.516 |
|
| 2019 |
Beijer D, Sisto A, Van Lent J, Baets J, Timmerman V. Defects in Axonal Transport in Inherited Neuropathies. Journal of Neuromuscular Diseases. PMID 31561383 DOI: 10.3233/Jnd-190427 |
0.364 |
|
| 2019 |
Gualandi F, Sette E, Fortunato F, Bigoni S, De Grandis D, Scotton C, Selvatici R, Neri M, Incensi A, Liguori R, Storbeck M, Karakaya M, Simioni V, Squarzoni S, Timmerman V, et al. Report of a novel ATP7A mutation causing distal motor neuropathy. Neuromuscular Disorders : Nmd. PMID 31558336 DOI: 10.1016/J.Nmd.2019.08.008 |
0.568 |
|
| 2019 |
Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, Zhang Y, Sourbron J, Adriaenssens E, Mullen P, Wiencek P, Hardies K, Lee JS, Giong HK, Distelmaier F, Elpeleg O, ... ... Timmerman V, et al. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish. Nature Communications. 10: 708. PMID 30755616 DOI: 10.1038/S41467-018-07953-W |
0.43 |
|
| 2019 |
Haidar M, Asselbergh B, Adriaenssens E, De Winter V, Timmermans JP, Auer-Grumbach M, Juneja M, Timmerman V. Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies. Autophagy. 1-18. PMID 30669930 DOI: 10.1080/15548627.2019.1569930 |
0.404 |
|
| 2019 |
Bernard-Marissal N, van Hameren G, Juneja M, Pellegrino C, Louhivuori L, Bartesaghi L, Rochat C, El Mansour O, Médard JJ, Croisier M, Maclachlan C, Poirot O, Uhlén P, Timmerman V, Tricaud N, et al. Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy. Proceedings of the National Academy of Sciences of the United States of America. PMID 30659145 DOI: 10.1073/Pnas.1810932116 |
0.432 |
|
| 2018 |
Krols M, Asselbergh B, De Rycke R, De Winter V, Seyer A, Müller FJ, Kurth I, Bultynck G, Timmerman V, Janssens S. Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution. Human Molecular Genetics. PMID 30339187 DOI: 10.1093/hmg/ddy352 |
0.338 |
|
| 2018 |
Juneja M, Burns J, Saporta MA, Timmerman V. Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 30018047 DOI: 10.1136/Jnnp-2018-318834 |
0.515 |
|
| 2018 |
Krols M, Detry S, Asselbergh B, Almeida-Souza L, Kremer A, Lippens S, De Rycke R, De Winter V, Müller FJ, Kurth I, McMahon HT, Savvides SN, Timmerman V, Janssens S. Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering. Cell Reports. 23: 2026-2038. PMID 29768202 DOI: 10.1016/J.Celrep.2018.04.071 |
0.338 |
|
| 2017 |
Kennedy D, Mnich K, Oommen D, Chakravarthy R, Almeida-Souza L, Krols M, Saveljeva S, Doyle K, Gupta S, Timmerman V, Janssens S, Gorman AM, Samali A. HSPB1 facilitates ERK-mediated phosphorylation and degradation of BIM to attenuate endoplasmic reticulum stress-induced apoptosis. Cell Death & Disease. 8: e3026. PMID 29048431 DOI: 10.1038/Cddis.2017.408 |
0.342 |
|
| 2017 |
Adriaenssens E, Geuens T, Baets J, Echaniz-Laguna A, Timmerman V. Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases. Brain : a Journal of Neurology. 140: 2541-2549. PMID 28969372 DOI: 10.1093/Brain/Awx187 |
0.483 |
|
| 2017 |
Bouhy D, Juneja M, Katona I, Holmgren A, Asselbergh B, De Winter V, Hochepied T, Goossens S, Haigh JJ, Libert C, Ceuterick-de Groote C, Irobi J, Weis J, Timmerman V. A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8. Acta Neuropathologica. PMID 28780615 DOI: 10.1007/s00401-017-1756-0 |
0.338 |
|
| 2017 |
Haidar M, Timmerman V. Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies. Frontiers in Molecular Neuroscience. 10: 143. PMID 28553203 DOI: 10.3389/Fnmol.2017.00143 |
0.439 |
|
| 2017 |
Echaniz-Laguna A, Geuens T, Petiot P, Péréon Y, Adriaenssens E, Haidar M, Capponi S, Maisonobe T, Fournier E, Dubourg O, Degos B, Salachas F, Lenglet T, Eymard B, Delmont E, ... ... Timmerman V, et al. Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic and Functional Insights into Novel Mutations. Human Mutation. PMID 28144995 DOI: 10.1002/Humu.23189 |
0.598 |
|
| 2017 |
Geuens T, De Winter V, Rajan N, Achsel T, Mateiu L, Almeida-Souza L, Asselbergh B, Bouhy D, Auer-Grumbach M, Bagni C, Timmerman V. Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease. Acta Neuropathologica Communications. 5: 5. PMID 28077174 DOI: 10.1186/S40478-016-0407-3 |
0.376 |
|
| 2017 |
Neri M, Selvatici R, Scotton C, Storbeck M, Vezyroglou K, Heller R, Tugnoli V, Bigoni S, Timmerman V, Wirth B, De D, Gualandi F, Ferlini A. P.328 - Clinical gene panel in UNIFE patients orphans of genetic diagnosis Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.368 |
0.359 |
|
| 2016 |
Bouhy D, Geuens T, De Winter V, Almeida-Souza L, Katona I, Weis J, Hochepied T, Goossens S, Haigh JJ, Janssens S, Timmerman V. Characterization of New Transgenic Mouse Models for Two Charcot-Marie-Tooth-Causing HspB1 Mutations using the Rosa26 Locus. Journal of Neuromuscular Diseases. 3: 183-200. PMID 27854215 DOI: 10.3233/Jnd-150144 |
0.547 |
|
| 2016 |
Peeters K, Palaima P, Pelayo-Negro AL, García A, Gallardo E, García-Barredo R, Mateiu L, Baets J, Menten B, De Vriendt E, De Jonghe P, Timmerman V, Infante J, Berciano J, Jordanova A. Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1. Annals of Neurology. PMID 27686364 DOI: 10.1002/Ana.24775 |
0.677 |
|
| 2016 |
Capponi S, Geuens T, Geroldi A, Origone P, Verdiani S, Cichero E, Adriaenssens E, De Winter V, Bandettini di Poggio M, Barberis M, Chiò A, Fossa P, Mandich P, Bellone E, Timmerman V. Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: the role of HSPB1. Human Mutation. PMID 27492805 DOI: 10.1002/Humu.23062 |
0.43 |
|
| 2015 |
Hardies K, de Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T, Azmi A, May P, Brilstra E, Becker F, Barisic N, Craiu D, Braun KP, Lal D, Thiele H, ... ... Timmerman V, et al. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain : a Journal of Neurology. 138: 3238-50. PMID 26384929 DOI: 10.1093/Brain/Awv263 |
0.571 |
|
| 2015 |
Peeters K, Bervoets S, Chamova T, Litvinenko I, De Vriendt E, Bichev S, Kancheva D, Mitev V, Kennerson M, Timmerman V, De Jonghe P, Tournev I, MacMillan J, Jordanova A. Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies. Human Mutation. 36: 287-91. PMID 25512093 DOI: 10.1002/Humu.22744 |
0.735 |
|
| 2015 |
Zimoń M, Battaloğlu E, Parman Y, Erdem S, Baets J, De Vriendt E, Atkinson D, Almeida-Souza L, Deconinck T, Ozes B, Goossens D, Cirak S, Van Damme P, Shboul M, Voit T, ... ... Timmerman V, et al. Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach. Neurogenetics. 16: 33-42. PMID 25231362 DOI: 10.1007/S10048-014-0422-0 |
0.729 |
|
| 2015 |
Strazisar M, Cammaerts S, van der Ven K, Forero DA, Lenaerts AS, Nordin A, Almeida-Souza L, Genovese G, Timmerman V, Liekens A, De Rijk P, Adolfsson R, Callaerts P, Del-Favero J. MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. Molecular Psychiatry. 20: 472-81. PMID 24888363 DOI: 10.1038/Mp.2014.53 |
0.546 |
|
| 2015 |
Scotton C, Italyankina E, Storbeck M, Vezyroglou K, Heller R, Neri M, Raimo FD, Mauro A, Tugnoli V, Timmerman V, Wirth B, Grandis DD, Gualandi F, Ferlini A. Next generation sequencing identifies a novel ATP7A mutation in two brothers with distal hereditary motor neuropathy and autonomic dysfunction Neuromuscular Disorders. 25. DOI: 10.1016/J.Nmd.2015.06.146 |
0.491 |
|
| 2015 |
Peeters K, Bervoets S, Chamova T, Litvinenko I, De Vriendt E, Bichev S, Kancheva D, Mitev V, Kennerson M, Timmerman V, De Jonghe P, Tournev I, Macmillan J, Jordanova A. Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies Human Mutation. 36: 287-291. DOI: 10.1002/humu.22744 |
0.649 |
|
| 2014 |
Ermanoska B, Motley WW, Leitão-Gonçalves R, Asselbergh B, Lee LH, De Rijk P, Sleegers K, Ooms T, Godenschwege TA, Timmerman V, Fischbeck KH, Jordanova A. CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila. Neurobiology of Disease. 68: 180-9. PMID 24807208 DOI: 10.1016/J.Nbd.2014.04.020 |
0.818 |
|
| 2014 |
Timmerman V, Strickland AV, Züchner S. Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success. Genes. 5: 13-32. PMID 24705285 DOI: 10.3390/Genes5010013 |
0.37 |
|
| 2014 |
Schabhüttl M, Wieland T, Senderek J, Baets J, Timmerman V, De Jonghe P, Reilly MM, Stieglbauer K, Laich E, Windhager R, Erwa W, Trajanoski S, Strom TM, Auer-Grumbach M. Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. Journal of Neurology. 261: 970-82. PMID 24627108 DOI: 10.1007/S00415-014-7289-8 |
0.536 |
|
| 2014 |
Janssens K, Goethals S, Atkinson D, Ermanoska B, Fransen E, Jordanova A, Auer-Grumbach M, Asselbergh B, Timmerman V. Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila. Neurobiology of Disease. 65: 211-9. PMID 24521780 DOI: 10.1016/J.Nbd.2014.01.021 |
0.657 |
|
| 2014 |
Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Gießelmann S, Beil FT, Pou-Serradell A, Vílchez JJ, Beetz C, Deconinck T, Timmerman V, et al. Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3 Brain. 137: 683-692. PMID 24459106 DOI: 10.1093/Brain/Awt357 |
0.549 |
|
| 2014 |
Timmerman V, De Jonghe P. Promising riboflavin treatment for motor neuron disorder. Brain : a Journal of Neurology. 137: 2-3. PMID 24424912 DOI: 10.1093/Brain/Awt342 |
0.444 |
|
| 2014 |
Peeters K, Litvinenko I, Chamova T, Asselbergh B, Almeida-Souza L, Geuens T, Ydens E, Zimon M, Irobi J, Vriendt ED, Winter VD, Ooms T, Timmerman V, Tournev I, Jordanova A. G.P.237 Neuromuscular Disorders. 24: 888. DOI: 10.1016/J.Nmd.2014.06.313 |
0.682 |
|
| 2013 |
Bouhy D, Timmerman V. Animal models of Charcot-Marie-Tooth disease and their relevance for understanding the disease in humans Revue Neurologique. 169: 971-977. PMID 24238786 DOI: 10.1016/J.Neurol.2013.07.027 |
0.459 |
|
| 2013 |
Leipold E, Liebmann L, Korenke GC, Heinrich T, Giesselmann S, Baets J, Ebbinghaus M, Goral RO, Stödberg T, Hennings JC, Bergmann M, Altmüller J, Thiele H, Wetzel A, Nürnberg P, ... Timmerman V, et al. A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nature Genetics. 45: 1399-404. PMID 24036948 DOI: 10.1038/Ng.2767 |
0.365 |
|
| 2013 |
Bouhy D, Timmerman V. Animal models and therapeutic prospects for Charcot-Marie-Tooth disease. Annals of Neurology. 74: 391-6. PMID 23913540 DOI: 10.1002/Ana.23987 |
0.447 |
|
| 2013 |
Holmgren A, Bouhy D, De Winter V, Asselbergh B, Timmermans JP, Irobi J, Timmerman V. Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments. Acta Neuropathologica. 126: 93-108. PMID 23728742 DOI: 10.1007/S00401-013-1133-6 |
0.436 |
|
| 2013 |
Peeters K, Litvinenko I, Asselbergh B, Almeida-Souza L, Chamova T, Geuens T, Ydens E, Zimoń M, Irobi J, De Vriendt E, De Winter V, Ooms T, Timmerman V, Tournev I, Jordanova A. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. American Journal of Human Genetics. 92: 955-64. PMID 23664119 DOI: 10.1016/J.Ajhg.2013.04.013 |
0.725 |
|
| 2013 |
Auer-Grumbach M, Bode H, Pieber TR, Schabhüttl M, Fischer D, Seidl R, Graf E, Wieland T, Schuh R, Vacariu G, Grill F, Timmerman V, Strom TM, Hornemann T. Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype. European Journal of Medical Genetics. 56: 266-9. PMID 23454272 DOI: 10.1016/J.Ejmg.2013.02.002 |
0.569 |
|
| 2013 |
Madrid RE, Lofgren A, Baets J, Timmerman V. Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse. Neuromuscular Disorders : Nmd. 23: 345-8. PMID 23313019 DOI: 10.1016/J.Nmd.2012.12.005 |
0.506 |
|
| 2013 |
Timmerman V, Clowes VE, Reid E. Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias. Experimental Neurology. 246: 14-25. PMID 22285450 DOI: 10.1016/J.Expneurol.2012.01.010 |
0.431 |
|
| 2013 |
Timmerman V. Understanding the pathomechanisms of inherited peripheral neuropathies Journal of the Neurological Sciences. 333. DOI: 10.1016/J.Jns.2013.07.1560 |
0.382 |
|
| 2012 |
Zimoń M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloğlu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Müller T, Fransen E, ... ... Timmerman V, et al. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nature Genetics. 44: 1080-3. PMID 22961002 DOI: 10.1038/Ng.2406 |
0.726 |
|
| 2012 |
Beetz C, Pieber TR, Hertel N, Schabhüttl M, Fischer C, Trajanoski S, Graf E, Keiner S, Kurth I, Wieland T, Varga RE, Timmerman V, Reilly MM, Strom TM, Auer-Grumbach M. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. American Journal of Human Genetics. 91: 139-45. PMID 22703882 DOI: 10.1016/J.Ajhg.2012.05.007 |
0.566 |
|
| 2012 |
Irobi J, Holmgren A, De Winter V, Asselbergh B, Gettemans J, Adriaensen D, Ceuterick-de Groote C, Van Coster R, De Jonghe P, Timmerman V. Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients. Neuromuscular Disorders : Nmd. 22: 699-711. PMID 22595202 DOI: 10.1016/J.Nmd.2012.04.005 |
0.419 |
|
| 2012 |
Rotthier A, Baets J, Timmerman V, Janssens K. Mechanisms of disease in hereditary sensory and autonomic neuropathies. Nature Reviews. Neurology. 8: 73-85. PMID 22270030 DOI: 10.1038/Nrneurol.2011.227 |
0.518 |
|
| 2012 |
Leitão-Gonçalves R, Ermanoska B, Jacobs A, De Vriendt E, Timmerman V, Lupski JR, Callaerts P, Jordanova A. Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT. Amino Acids. 42: 1661-8. PMID 21384131 DOI: 10.1007/S00726-011-0868-4 |
0.817 |
|
| 2012 |
Bogaert E, Goris A, Van Damme P, Geelen V, Lemmens R, van Es MA, van den Berg LH, Sleegers K, Verpoorten N, Timmerman V, De Jonghe P, Van Broeckhoven C, Traynor BJ, Landers JE, Brown RH, et al. Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis. Neurobiology of Aging. 33: 418-20. PMID 20409611 DOI: 10.1016/J.Neurobiolaging.2010.03.007 |
0.352 |
|
| 2012 |
Guergueltcheva V, Peeters K, Baets J, Ceuterick-de Groote C, Martin J, Suls A, Vriendt E, Mihaylova V, Chamova T, Almeida-Souza L, Ydens E, Tzekov C, Hadjidekov G, Gospodinova M, Storm K, ... ... Timmerman V, et al. G.O.7 Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency Neuromuscular Disorders. 22: 874-875. DOI: 10.1016/J.Nmd.2012.06.238 |
0.705 |
|
| 2011 |
Guergueltcheva V, Peeters K, Baets J, Ceuterick-de Groote C, Martin JJ, Suls A, De Vriendt E, Mihaylova V, Chamova T, Almeida-Souza L, Ydens E, Tzekov C, Hadjidekov G, Gospodinova M, Storm K, ... ... Timmerman V, et al. Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency. Neurology. 77: 2105-14. PMID 22131542 DOI: 10.1212/Wnl.0B013E31823Dc51E |
0.624 |
|
| 2011 |
Almeida-Souza L, Asselbergh B, d'Ydewalle C, Moonens K, Goethals S, de Winter V, Azmi A, Irobi J, Timmermans JP, Gevaert K, Remaut H, Van Den Bosch L, Timmerman V, Janssens S. Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 31: 15320-8. PMID 22031878 DOI: 10.1523/Jneurosci.3266-11.2011 |
0.436 |
|
| 2011 |
Baets J, Deconinck T, De Vriendt E, Zimoń M, Yperzeele L, Van Hoorenbeeck K, Peeters K, Spiegel R, Parman Y, Ceulemans B, Van Bogaert P, Pou-Serradell A, Bernert G, Dinopoulos A, Auer-Grumbach M, ... ... Timmerman V, et al. Genetic spectrum of hereditary neuropathies with onset in the first year of life. Brain : a Journal of Neurology. 134: 2664-76. PMID 21840889 DOI: 10.1093/Brain/Awr184 |
0.751 |
|
| 2011 |
Rivière JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, ... ... Timmerman V, et al. KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. American Journal of Human Genetics. 89: 219-30. PMID 21820098 DOI: 10.1016/J.Ajhg.2011.06.013 |
0.61 |
|
| 2011 |
D'Ydewalle C, Krishnan J, Chiheb DM, Van Damme P, Irobi J, Kozikowski AP, Berghe PV, Timmerman V, Robberecht W, Van Den Bosch L. HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease Nature Medicine. 17: 968-974. PMID 21785432 DOI: 10.1038/Nm.2396 |
0.523 |
|
| 2011 |
Zimoń M, Baets J, Fabrizi GM, Jaakkola E, Kabzińska D, Pilch J, Schindler AB, Cornblath DR, Fischbeck KH, Auer-Grumbach M, Guelly C, Huber N, De Vriendt E, Timmerman V, Suter U, et al. Dominant GDAP1 mutations cause predominantly mild CMT phenotypes. Neurology. 77: 540-8. PMID 21753178 DOI: 10.1212/Wnl.0B013E318228Fc70 |
0.759 |
|
| 2011 |
Rotthier A, Penno A, Rautenstrauss B, Auer-Grumbach M, Stettner GM, Asselbergh B, Van Hoof K, Sticht H, Lévy N, Timmerman V, Hornemann T, Janssens K. Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. Human Mutation. 32: E2211-25. PMID 21618344 DOI: 10.1002/Humu.21481 |
0.54 |
|
| 2011 |
Baets J, Timmerman V. Inherited peripheral neuropathies: a myriad of genes and complex phenotypes. Brain : a Journal of Neurology. 134: 1587-90. PMID 21616967 DOI: 10.1093/Brain/Awr114 |
0.569 |
|
| 2011 |
Verheijen MH, Lammens M, Ceuterick-de Groote C, Timmerman V, De Jonghe P, King RH, Smit AB, van Minnen J. Increased axonal ribosome numbers in CMT diseases. Journal of the Peripheral Nervous System : Jpns. 16: 71-3. PMID 21504506 DOI: 10.1111/J.1529-8027.2011.00322.X |
0.305 |
|
| 2011 |
Berciano J, Baets J, Gallardo E, Zimoń M, García A, López-Laso E, Combarros O, Infante J, Timmerman V, Jordanova A, De Jonghe P. Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation. Journal of Neurology. 258: 1413-21. PMID 21336783 DOI: 10.1007/S00415-011-5947-7 |
0.738 |
|
| 2011 |
Timmerman V. S.I.3 Molecular genetics of Charcot–Marie–Tooth neuropathies: From mutations to gene interaction networks Neuromuscular Disorders. 21: 680. DOI: 10.1016/J.Nmd.2011.06.889 |
0.474 |
|
| 2011 |
D'Ydewalle C, Krishnan J, Timmerman V, Van Den Bosch L. The small heat-shock proteins: Cellular functions and mutations causing neurodegeneration Folding For the Synapse. 49-77. DOI: 10.1007/978-1-4419-7061-9-4 |
0.332 |
|
| 2010 |
Rotthier A, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, Löscher W, Vondráček P, Seeman P, De Jonghe P, Van Dijck P, ... ... Timmerman V, et al. Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. American Journal of Human Genetics. 87: 513-22. PMID 20920666 DOI: 10.1016/J.Ajhg.2010.09.010 |
0.748 |
|
| 2010 |
Rakocevic-Stojanovic V, Milić-Rašić V, Perić S, Baets J, Timmerman V, Dierick I, Pavlović S, De Jonghe P. N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome Journal of the Neurological Sciences. 296: 107-109. PMID 20598714 DOI: 10.1016/J.Jns.2010.06.015 |
0.495 |
|
| 2010 |
Irobi J, Almeida-Souza L, Asselbergh B, De Winter V, Goethals S, Dierick I, Krishnan J, Timmermans JP, Robberecht W, De Jonghe P, Van Den Bosch L, Janssens S, Timmerman V. Mutant HSPB8 causes motor neuron-specific neurite degeneration. Human Molecular Genetics. 19: 3254-65. PMID 20538880 DOI: 10.1093/Hmg/Ddq234 |
0.433 |
|
| 2010 |
Aretz S, Rautenstrauss B, Timmerman V. Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP. European Journal of Human Genetics : Ejhg. 18. PMID 20512157 DOI: 10.1038/Ejhg.2010.75 |
0.316 |
|
| 2010 |
Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, ... ... Timmerman V, et al. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. American Journal of Human Genetics. 86: 892-903. PMID 20493460 DOI: 10.1016/J.Ajhg.2010.05.001 |
0.377 |
|
| 2010 |
Zimo? M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE, Landouré G, Ludlow CL, ... ... Timmerman V, et al. Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain : a Journal of Neurology. 133: 1798-809. PMID 20460441 DOI: 10.1093/Brain/Awq109 |
0.738 |
|
| 2010 |
Kabzińska D, Strugalska-Cynowska H, Kostera-Pruszczyk A, Ryniewicz B, Posmyk R, Midro A, Seeman P, Báranková L, Zimoń M, Baets J, Timmerman V, Guergueltcheva V, Tournev I, Sarafov S, De Jonghe P, et al. L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype. Neurogenetics. 11: 357-66. PMID 20232219 DOI: 10.1007/S10048-010-0237-6 |
0.745 |
|
| 2010 |
Almeida-Souza L, Goethals S, de Winter V, Dierick I, Gallardo R, Van Durme J, Irobi J, Gettemans J, Rousseau F, Schymkowitz J, Timmerman V, Janssens S. Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy. The Journal of Biological Chemistry. 285: 12778-86. PMID 20178975 DOI: 10.1074/Jbc.M109.082644 |
0.446 |
|
| 2010 |
Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, et al. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. American Journal of Human Genetics. 86: 343-52. PMID 20170900 DOI: 10.1016/J.Ajhg.2010.01.027 |
0.545 |
|
| 2010 |
Appenzeller S, Schirmacher A, Halfter H, Bäumer S, Pendziwiat M, Timmerman V, De Jonghe P, Fekete K, Stögbauer F, Lüdemann P, Hund M, Quabius ES, Ringelstein EB, Kuhlenbäumer G. Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. American Journal of Human Genetics. 86: 83-7. PMID 20085714 DOI: 10.1016/J.Ajhg.2009.12.003 |
0.468 |
|
| 2009 |
Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nürnberg G, Nürnberg P, De Jonghe P, Gal A, Kaether C, ... Timmerman V, et al. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nature Genetics. 41: 1179-81. PMID 19838196 DOI: 10.1038/Ng.464 |
0.457 |
|
| 2009 |
Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain : a Journal of Neurology. 132: 2699-711. PMID 19651702 DOI: 10.1093/Brain/Awp198 |
0.77 |
|
| 2009 |
Storkebaum E, Leitão-Gonçalves R, Godenschwege T, Nangle L, Mejia M, Bosmans I, Ooms T, Jacobs A, Van Dijck P, Yang XL, Schimmel P, Norga K, Timmerman V, Callaerts P, Jordanova A. Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy. Proceedings of the National Academy of Sciences of the United States of America. 106: 11782-7. PMID 19561293 DOI: 10.1073/Pnas.0905339106 |
0.808 |
|
| 2009 |
Claeys KG, Züchner S, Kennerson M, Berciano J, Garcia A, Verhoeven K, Storey E, Merory JR, Bienfait HM, Lammens M, Nelis E, Baets J, De Vriendt E, Berneman ZN, De Veuster I, ... ... Timmerman V, et al. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Brain : a Journal of Neurology. 132: 1741-52. PMID 19502294 DOI: 10.1093/Brain/Awp115 |
0.581 |
|
| 2009 |
Fabrizi GM, Taioli F, Cavallaro T, Ferrari S, Bertolasi L, Casarotto M, Rizzuto N, Deconinck T, Timmerman V, De Jonghe P. Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. Neurology. 72: 1160-4. PMID 19332693 DOI: 10.1212/01.Wnl.0000345373.58618.B6 |
0.575 |
|
| 2009 |
Baets J, Dierick I, Groote CC, Ende Jv, Martin JJ, Geens K, Robberecht W, Nelis E, Timmerman V, Jonghe PD. Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity. Neuromuscular Disorders : Nmd. 19: 172-5. PMID 19167223 DOI: 10.1016/J.Nmd.2008.11.006 |
0.502 |
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| 2009 |
Hornemann T, Penno A, Richard S, Nicholson G, van Dijk FS, Rotthier A, Timmerman V, von Eckardstein A. A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated. Neurogenetics. 10: 135-43. PMID 19132419 DOI: 10.1007/S10048-008-0168-7 |
0.521 |
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| 2009 |
Kilic SS, Ozturk R, Sarisozen B, Rotthier A, Baets J, Timmerman V. Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis. Neurogenetics. 10: 161-5. PMID 19089473 DOI: 10.1007/S10048-008-0165-X |
0.453 |
|
| 2009 |
Mazanec R, Haberlová J, Redlová M, Irobi J, Timmerman V, Seeman P. FP54-FR-03 Distal hereditary motor neuropathy in a large Czech family: clinical and electrophysiological study Journal of the Neurological Sciences. 285. DOI: 10.1016/S0022-510X(09)70556-8 |
0.362 |
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| 2008 |
Reddel S, Ouvrier RA, Nicholson G, Dierick I, Irobi J, Timmerman V, Ryan MM. Autosomal dominant congenital spinal muscular atrophy - A possible developmental deficiency of motor neurones? Neuromuscular Disorders. 18: 530-535. PMID 18579380 DOI: 10.1016/J.Nmd.2008.04.016 |
0.348 |
|
| 2008 |
Gallardo E, Claeys KG, Nelis E, García A, Canga A, Combarros O, Timmerman V, De Jonghe P, Berciano J. Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation. Journal of Neurology. 255: 986-92. PMID 18560793 DOI: 10.1007/S00415-008-0808-8 |
0.356 |
|
| 2008 |
Auer-Grumbach M, Fischer C, Papić L, John E, Plecko B, Bittner RE, Bernert G, Pieber TR, Miltenberger G, Schwarz R, Windpassinger C, Grill F, Timmerman V, Speicher MR, Janecke AR. Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome Neuropediatrics. 39: 33-38. PMID 18504680 DOI: 10.1055/S-2008-1077085 |
0.597 |
|
| 2008 |
Dierick I, Baets J, Irobi J, Jacobs A, De Vriendt E, Deconinck T, Merlini L, Van den Bergh P, Rasic VM, Robberecht W, Fischer D, Morales RJ, Mitrovic Z, Seeman P, Mazanec R, ... ... Timmerman V, et al. Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. Brain : a Journal of Neurology. 131: 1217-27. PMID 18325928 DOI: 10.1093/Brain/Awn029 |
0.755 |
|
| 2008 |
Barisic N, Claeys KG, Sirotković-skerlev M, Löfgren A, Nelis E, De Jonghe P, Timmerman V. Charcot-Marie-Yooth disease: A clinico-genetic confrontation Annals of Human Genetics. 72: 416-441. PMID 18215208 DOI: 10.1111/J.1469-1809.2007.00412.X |
0.451 |
|
| 2007 |
Kochański A, Dierick I, Timmerman V, Hausmanowa-Petrusewicz I. [Silver syndrome--case report]. Neurologia I Neurochirurgia Polska. 41: 562-6. PMID 18224579 |
0.357 |
|
| 2007 |
Dierick I, Irobi J, Janssens S, Theuns J, Lemmens R, Jacobs A, Corsmit E, Hersmus N, Van Den Bosch L, Robberecht W, De Jonghe P, Van Broeckhoven C, Timmerman V. Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response. Human Mutation. 28: 830. PMID 17623484 DOI: 10.1002/Humu.9503 |
0.353 |
|
| 2007 |
Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene. Archives of Neurology. 64: 966-70. PMID 17620486 DOI: 10.1001/Archneur.64.7.966 |
0.582 |
|
| 2007 |
Koop O, Schirmacher A, Nelis E, Timmerman V, De Jonghe P, Ringelstein B, Rasic VM, Evrard P, Gärtner J, Claeys KG, Appenzeller S, Rautenstrauss B, Hühne K, Ramos-Arroyo MA, Wörle H, et al. Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN). Neuromuscular Disorders : Nmd. 17: 624-30. PMID 17587580 DOI: 10.1016/J.Nmd.2007.03.012 |
0.589 |
|
| 2007 |
Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, De Jonghe P, ... ... Timmerman V, et al. Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. American Journal of Human Genetics. 81: 158-64. PMID 17564972 DOI: 10.1086/518770 |
0.366 |
|
| 2007 |
Bienfait HM, Baas F, Koelman JH, de Haan RJ, van Engelen BG, Gabreëls-Festen AA, Ongerboer de Visser BW, Meggouh F, Weterman MA, De Jonghe P, Timmerman V, de Visser M. Phenotype of Charcot-Marie-Tooth disease Type 2. Neurology. 68: 1658-67. PMID 17502546 DOI: 10.1212/01.Wnl.0000263479.97552.94 |
0.4 |
|
| 2007 |
Kennerson ML, Warburton T, Nelis E, Brewer M, Polly P, De Jonghe P, Timmerman V, Nicholson GA. Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. Clinical Chemistry. 53: 349-52. PMID 17200131 DOI: 10.1373/Clinchem.2006.080010 |
0.489 |
|
| 2007 |
Fourcade G, Morales R, Pageot N, Timmerman V, Camu W. J - 11 Une nouvelle famille d’HMN distale liée à une mutation du gène HSP27 Revue Neurologique. 163: 93-93. DOI: 10.1016/S0035-3787(07)90663-3 |
0.322 |
|
| 2006 |
Ivanova N, Löfgren A, Tournev I, Rousev R, Andreeva A, Jordanova A, Georgieva V, Deconinck T, Timmerman V, Kremensky I, De Jonghe P, Mitev V. Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia. Clinical Genetics. 70: 490-5. PMID 17100993 DOI: 10.1111/J.1399-0004.2006.00705.X |
0.75 |
|
| 2006 |
Timmerman V, Herrmann DN. A "nerve" ending story in the identification of mutations in Charcot-Marie-Tooth neuropathy. Neurology. 67: 1114-5. PMID 17030741 DOI: 10.1212/01.Wnl.0000243247.30072.A2 |
0.577 |
|
| 2006 |
Verhoeven K, Timmerman V, Mauko B, Pieber TR, De Jonghe P, Auer-Grumbach M. Recent advances in hereditary sensory and autonomic neuropathies. Current Opinion in Neurology. 19: 474-80. PMID 16969157 DOI: 10.1097/01.Wco.0000245370.82317.F6 |
0.392 |
|
| 2006 |
Van Den Bosch L, Timmerman V. Genetics of motor neuron disease. Current Neurology and Neuroscience Reports. 6: 423-31. PMID 16928353 DOI: 10.1007/S11910-996-0024-9 |
0.469 |
|
| 2006 |
Irobi J, Dierick I, Jordanova A, Claeys KG, De Jonghe P, Timmerman V. Unraveling the genetics of distal hereditary motor neuronopathies. Neuromolecular Medicine. 8: 131-46. PMID 16775372 DOI: 10.1385/Nmm:8:1-2:131 |
0.683 |
|
| 2006 |
Timmerman V, Lupski JR, De Jonghe P. Molecular genetics, biology, and therapy for inherited peripheral neuropathies. Neuromolecular Medicine. 8: 1-2. PMID 16775363 DOI: 10.1385/Nmm:8:1-2:1 |
0.343 |
|
| 2006 |
Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, ... ... Timmerman V, et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain : a Journal of Neurology. 129: 2093-102. PMID 16714318 DOI: 10.1093/Brain/Awl126 |
0.745 |
|
| 2006 |
Coen K, Pareyson D, Auer-Grumbach M, Buyse G, Goemans N, Claeys KG, Verpoorten N, Laurà M, Scaioli V, Salmhofer W, Pieber TR, Nelis E, De Jonghe P, Timmerman V. Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II Neurology. 66: 748-751. PMID 16534117 DOI: 10.1212/01.Wnl.0000201191.57519.47 |
0.557 |
|
| 2006 |
Züchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, ... ... Timmerman V, et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Annals of Neurology. 59: 276-81. PMID 16437557 DOI: 10.1002/Ana.20797 |
0.692 |
|
| 2006 |
Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, Rao CV, Tournev I, Gondim FA, D'Hooghe M, Van Gerwen V, ... ... Timmerman V, et al. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nature Genetics. 38: 197-202. PMID 16429158 DOI: 10.1038/Ng1727 |
0.798 |
|
| 2006 |
Verpoorten N, Claeys KG, Deprez L, Jacobs A, Van Gerwen V, Lagae L, Arts WF, De Meirleir L, Keymolen K, Ceuterick-de Groote C, De Jonghe P, Timmerman V, Nelis E. Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV. Neuromuscular Disorders : Nmd. 16: 19-25. PMID 16373086 DOI: 10.1016/J.Nmd.2005.10.007 |
0.545 |
|
| 2006 |
Verpoorten N, De Jonghe P, Timmerman V. Disease mechanisms in hereditary sensory and autonomic neuropathies. Neurobiology of Disease. 21: 247-55. PMID 16183296 DOI: 10.1016/J.Nbd.2005.08.004 |
0.478 |
|
| 2006 |
Claeys KG, Züchner S, Kennerson M, Verhoeven K, Ceuterick C, Martin JJ, Berciano J, Vance JM, Nicholson G, Timmerman V, Jonghe PD. G.O. 9 Dynamin 2 mutations are associated with dominant intermediate Charcot-Marie-Tooth disease and dominant centronuclear myopathy Neuromuscular Disorders. 16: 725. DOI: 10.1016/J.Nmd.2006.05.256 |
0.438 |
|
| 2006 |
Verhoeven K, Claeys KG, Züchner S, Schröder JM, Vance JM, Timmerman V, Jonghe PD. N.P.3 05 Mitofusin 2 mutations are a major cause for autosomal dominant axonal CMT neuropathy Neuromuscular Disorders. 16: 665-666. DOI: 10.1016/J.Nmd.2006.05.081 |
0.487 |
|
| 2006 |
Gonçalves RBL, Jordanova A, Callaerts P, Timmerman V. N.P.3 01 Tyrosyl-tRNA synthetase (YARS), molecular genetics and functional studies on a dominant intermediate Charcot-Marie-Tooth associated gene Neuromuscular Disorders. 16: 664-664. DOI: 10.1016/J.Nmd.2006.05.077 |
0.723 |
|
| 2006 |
Irobi J, Dierick I, Corte Vd, Gettemans J, Robberecht W, Bosch LVD, Timmermans J-, Jonghe PD, Timmerman V. G.O.1 In vitro expression of small heat shock protein HSPB8 and HSPB1 mutations causing axonal neuropathy Neuromuscular Disorders. 16: 645-646. DOI: 10.1016/J.Nmd.2006.05.023 |
0.416 |
|
| 2006 |
Verpoorten N, Verhoeven K, Weckx S, Jacobs A, Serneels S, Favero JD, Ceuterick C, Bockstaele DRV, Berneman ZN, Jordaens K, Bosch LVD, Robberecht W, Nobbio L, Schenone A, Dessaud E, ... ... Timmerman V, et al. Corrigendum to “Synaptopodin and 4 novel genes identified in primary sensory neurons” [Mol. Cell. Neurosci. 30 (2005) 316–325] Molecular and Cellular Neuroscience. 32: 216. DOI: 10.1016/J.Mcn.2006.01.012 |
0.33 |
|
| 2005 |
Dierick I, Irobi J, De Jonghe P, Timmerman V. Small heat shock proteins in inherited peripheral neuropathies. Annals of Medicine. 37: 413-22. PMID 16203614 DOI: 10.1080/07853890500296410 |
0.321 |
|
| 2005 |
Kuhlenbäumer G, Hannibal MC, Nelis E, Schirmacher A, Verpoorten N, Meuleman J, Watts GD, De Vriendt E, Young P, Stögbauer F, Halfter H, Irobi J, Goossens D, Del-Favero J, Betz BG, ... ... Timmerman V, et al. Mutations in SEPT9 cause hereditary neuralgic amyotrophy. Nature Genetics. 37: 1044-6. PMID 16186812 DOI: 10.1038/Ng1649 |
0.563 |
|
| 2005 |
Verpoorten N, Verhoeven K, Weckx S, Jacobs A, Serneels S, Del Favero J, Ceuterick C, Van Bockstaele DR, Berneman ZN, Van den Bosch L, Robberecht W, Nobbio L, Schenone A, Dessaud E, deLapeyrière O, ... ... Timmerman V, et al. Synaptopodin and 4 novel genes identified in primary sensory neurons. Molecular and Cellular Neurosciences. 30: 316-25. PMID 16139508 DOI: 10.1016/J.Mcn.2005.07.005 |
0.353 |
|
| 2005 |
Koop O, Timmerman V, de Jonghe P, Ringelstein B, Young P, Kuhlenbäumer G. Absence of mutations in the prion-protein gene in a large cohort of HMSN patients. Neuromuscular Disorders : Nmd. 15: 549-51. PMID 16009550 DOI: 10.1016/J.Nmd.2005.06.007 |
0.55 |
|
| 2005 |
Vigo T, Nobbio L, Hummelen PV, Abbruzzese M, Mancardi G, Verpoorten N, Verhoeven K, Sereda MW, Nave KA, Timmerman V, Schenone A. Experimental Charcot-Marie-Tooth type 1A: a cDNA microarrays analysis. Molecular and Cellular Neurosciences. 28: 703-14. PMID 15797717 DOI: 10.1016/J.Mcn.2004.11.016 |
0.39 |
|
| 2005 |
Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, et al. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nature Genetics. 37: 289-94. PMID 15731758 DOI: 10.1038/Ng1514 |
0.558 |
|
| 2005 |
Zuchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, Jonghe PD, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, et al. Mutations in the Pleckstrin Homology Domain of Dynamin 2 Cause Dominant Intermediate Charcot-Marie-Tooth Disease LBS.002 Neurology. 64: 1826-1826. DOI: 10.1212/Wnl.64.10.1826-A |
0.389 |
|
| 2004 |
Parman Y, Battaloglu E, Baris I, Bilir B, Poyraz M, Bissar-Tadmouri N, Williams A, Ammar N, Nelis E, Timmerman V, De Jonghe P, Najafov A, Necefov A, Deymeer F, Serdaroglu P, et al. Clinicopathological and genetic study of early-onset demyelinating neuropathy. Brain : a Journal of Neurology. 127: 2540-50. PMID 15469949 DOI: 10.1093/Brain/Awh275 |
0.614 |
|
| 2004 |
Irobi J, De Jonghe P, Timmerman V. Molecular genetics of distal hereditary motor neuropathies. Human Molecular Genetics. 13: R195-202. PMID 15358725 DOI: 10.1093/Hmg/Ddh226 |
0.507 |
|
| 2004 |
Irobi J, Van den Bergh P, Merlini L, Verellen C, Van Maldergem L, Dierick I, Verpoorten N, Jordanova A, Windpassinger C, De Vriendt E, Van Gerwen V, Auer-Grumbach M, Wagner K, Timmerman V, De Jonghe P. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain : a Journal of Neurology. 127: 2124-30. PMID 15242882 DOI: 10.1093/Brain/Awh232 |
0.72 |
|
| 2004 |
Kuhlenbäumer G, Lüdemann P, Schirmacher A, De Vriendt E, Hünermund G, Young P, Hund-Georgiadis M, Schuierer G, Möller H, Ringelstein EB, Van Broeckhoven C, Timmerman V, Stögbauer F. Autosomal dominant striatal degeneration (ADSD): Clinical description and mapping to 5q13-5q14 Neurology. 62: 2203-2208. PMID 15210883 DOI: 10.1212/01.Wnl.0000130485.89814.10 |
0.368 |
|
| 2004 |
Bissar-Tadmouri N, Nelis E, Züchner S, Parman Y, Deymeer F, Serdaroglu P, De Jonghe P, Van Gerwen V, Timmerman V, Schröder JM, Battaloglu E. Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene Neurology. 62: 1522-1525. PMID 15136675 DOI: 10.1212/01.Wnl.0000123253.57555.3A |
0.507 |
|
| 2004 |
Bennett CL, Shirk AJ, Huynh HM, Street VA, Nelis E, Van Maldergem L, De Jonghe P, Jordanova A, Guergueltcheva V, Tournev I, Van Den Bergh P, Seeman P, Mazanec R, Prochazka T, Kremensky I, ... ... Timmerman V, et al. SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve. Annals of Neurology. 55: 713-20. PMID 15122712 DOI: 10.1002/Ana.20094 |
0.729 |
|
| 2004 |
Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, ... ... Timmerman V, et al. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nature Genetics. 36: 602-6. PMID 15122254 DOI: 10.1038/Ng1354 |
0.616 |
|
| 2004 |
Irobi J, Van Impe K, Seeman P, Jordanova A, Dierick I, Verpoorten N, Michalik A, De Vriendt E, Jacobs A, Van Gerwen V, Vennekens K, Mazanec R, Tournev I, Hilton-Jones D, Talbot K, ... ... Timmerman V, et al. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nature Genetics. 36: 597-601. PMID 15122253 DOI: 10.1038/Ng1328 |
0.681 |
|
| 2004 |
Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, ... ... Timmerman V, et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). American Journal of Human Genetics. 74: 1128-35. PMID 15106121 DOI: 10.1086/421054 |
0.465 |
|
| 2004 |
Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, ... ... Timmerman V, et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nature Genetics. 36: 449-51. PMID 15064763 DOI: 10.1038/Ng1341 |
0.528 |
|
| 2004 |
Hünermund G, Schirmacher A, Ringelstein B, Young P, Watts GD, Meuleman J, Nelis E, Chance PF, Timmerman V, Stögbauer F, Kuhlenbäumer G. Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy. Muscle & Nerve. 29: 601-4. PMID 15052627 DOI: 10.1002/Mus.20009 |
0.534 |
|
| 2004 |
Verhoeven K, Coen K, De Vriendt E, Jacobs A, Van Gerwen V, Smouts I, Pou-Serradell A, Martin JJ, Timmerman V, De Jonghe P. SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I. Neurology. 62: 1001-2. PMID 15037712 DOI: 10.1212/01.Wnl.0000115388.10828.5C |
0.562 |
|
| 2004 |
Nelis E, Berciano J, Verpoorten N, Coen K, Dierick I, Van Gerwen V, Combarros O, De Jonghe P, Timmerman V. Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3 Journal of Medical Genetics. 41: 193-197. PMID 14985381 DOI: 10.1136/Jmg.2003.012633 |
0.578 |
|
| 2004 |
Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, ... ... Timmerman V, et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nature Genetics. 36: 271-6. PMID 14981520 DOI: 10.1038/Ng1313 |
0.546 |
|
| 2004 |
Vigo T, Schenone A, Mancardi G, Abruzzese M, Timmerman V, Hummelen PV, Nobbio L. Expression of ciliary neurotrophic factor (CNTF) in charcot-marie-tooth type 1A (CMT1A) disease Journal of the Peripheral Nervous System. 9: 111-111. DOI: 10.1111/J.1085-9489.2004.009209X.X |
0.318 |
|
| 2004 |
Kuhlenbäumer G, Schirmacher A, Lüdemann P, Vriendt Ed, Hund-Georgiadis M, Schuierer G, Hünermund G, Young P, Ringelstein B, Broeckhoven CV, Timmerman V, Stögbauer F. Autosomal dominante striatale Degeneration – eine hereditäre Krankheit der Basalganglien Aktuelle Neurologie. 31. DOI: 10.1055/S-2004-833015 |
0.302 |
|
| 2004 |
Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, ... ... Timmerman V, et al. Correction: Corrigendum: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A Nature Genetics. 36: 660-660. DOI: 10.1038/Ng0604-660 |
0.432 |
|
| 2003 |
De Jonghe P, Timmerman V. Anti-steroid takes aim at neuropathy. Nature Medicine. 9: 1457-8. PMID 14647517 DOI: 10.1038/Nm1203-1457 |
0.316 |
|
| 2003 |
Jordanova A, Thomas FP, Guergueltcheva V, Tournev I, Gondim FA, Ishpekova B, De Vriendt E, Jacobs A, Litvinenko I, Ivanova N, Buzhov B, De Jonghe P, Kremensky I, Timmerman V. Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35. American Journal of Human Genetics. 73: 1423-30. PMID 14606043 DOI: 10.1086/379792 |
0.68 |
|
| 2003 |
Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, et al. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. American Journal of Human Genetics. 73: 1106-19. PMID 14574644 DOI: 10.1086/379525 |
0.578 |
|
| 2003 |
Ammar N, Nelis E, Merlini L, Barisić N, Amouri R, Ceuterick C, Martin JJ, Timmerman V, Hentati F, De Jonghe P. Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. Neuromuscular Disorders : Nmd. 13: 720-8. PMID 14561495 DOI: 10.1016/S0960-8966(03)00093-2 |
0.579 |
|
| 2003 |
Lus G, Nelis E, Jordanova A, Löfgren A, Cavallaro T, Ammendola A, Melone MA, Rizzuto N, Timmerman V, Cotrufo R, De Jonghe P. Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity. Neurology. 61: 988-90. PMID 14557576 DOI: 10.1212/Wnl.61.7.988 |
0.684 |
|
| 2003 |
Verhoeven K, De Jonghe P, Van de Putte T, Nelis E, Zwijsen A, Verpoorten N, De Vriendt E, Jacobs A, Van Gerwen V, Francis A, Ceuterick C, Huylebroeck D, Timmerman V. Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10. American Journal of Human Genetics. 73: 926-32. PMID 14508709 DOI: 10.1086/378159 |
0.455 |
|
| 2003 |
Lee MJ, Stephenson DA, Groves MJ, Sweeney MG, Davis MB, An SF, Houlden H, Salih MA, Timmerman V, de Jonghe P, Auer-Grumbach M, Di Maria E, Scaravilli F, Wood NW, Reilly MM. Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene. Human Molecular Genetics. 12: 1917-25. PMID 12874111 DOI: 10.1093/Hmg/Ddg198 |
0.571 |
|
| 2003 |
Demir E, Irobi J, Erdem S, Demirci M, Tan E, Timmerman V, De Jonghe P, Topaloglu H. Andermann syndrome in a Turkish patient. Journal of Child Neurology. 18: 76-9. PMID 12661946 DOI: 10.1177/08830738030180011901 |
0.395 |
|
| 2003 |
Auer-Grumbach M, De Jonghe P, Verhoeven K, Timmerman V, Wagner K, Hartung HP, Nicholson GA. Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review. Archives of Neurology. 60: 329-34. PMID 12633143 DOI: 10.1001/Archneur.60.3.329 |
0.515 |
|
| 2003 |
Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, ... ... Timmerman V, et al. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain : a Journal of Neurology. 126: 590-7. PMID 12566280 DOI: 10.1093/Brain/Awg059 |
0.757 |
|
| 2003 |
Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, FitzPatrick D, Schmedding E, De Vriendt E, Jacobs A, Van Gerwen V, Wagner K, Hartung HP, Timmerman V. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy American Journal of Human Genetics. 72: 722-727. PMID 12545426 DOI: 10.1086/367847 |
0.527 |
|
| 2002 |
Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreëls-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, ... ... Timmerman V, et al. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology. 59: 1865-72. PMID 12499475 DOI: 10.1212/01.Wnl.0000036272.36047.54 |
0.545 |
|
| 2002 |
Nelis E, Erdem S, Tan E, Löfgren A, Ceuterick C, De Jonghe P, Van Broeckhoven C, Timmerman V, Topaloglu H. A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths Neuromuscular Disorders. 12: 869-873. PMID 12398840 DOI: 10.1016/S0960-8966(02)00046-9 |
0.554 |
|
| 2002 |
Dawkins JL, Brahmbhatt S, Auer-Grumbach M, Wagner K, Hartung HP, Verhoeven K, Timmerman V, De Jonghe P, Kennerson M, LeGuern E, Nicholson GA. Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy. Neuromuscular Disorders : Nmd. 12: 656-8. PMID 12207934 DOI: 10.1016/S0960-8966(02)00015-9 |
0.525 |
|
| 2002 |
Van de Wetering RAC, Gabreëls-Festen AAWM, Timmerman V, Padberg GW, Gabreëls FJM, Mariman ECM. Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene Neuromuscular Disorders. 12: 651-655. PMID 12207933 DOI: 10.1016/S0960-8966(02)00025-1 |
0.39 |
|
| 2002 |
Takashima H, Boerkoel CF, De Jonghe P, Ceuterick C, Martin JJ, Voit T, Schröder JM, Williams A, Brophy PJ, Timmerman V, Lupski JR. Periaxin mutations cause a broad spectrum of demyelinating neuropathies. Annals of Neurology. 51: 709-15. PMID 12112076 DOI: 10.1002/Ana.10213 |
0.619 |
|
| 2002 |
Irobi J, Nelis E, Verhoeven K, De Vriendt E, Dierick I, De Jonghe P, Van Broeckhoven C, Timmerman V. Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3 Journal of the Peripheral Nervous System. 7: 87-95. PMID 12090300 DOI: 10.1046/J.1529-8027.2002.02014.X |
0.394 |
|
| 2002 |
Pou Serradell A, Monells J, Téllez MJ, Fossas P, Löfgren A, Meuleman J, Timmerman V, De Jonghe P, Ceuterick C, Martin JJ. Hereditary neuropathy with liability to pressure palsies: Study of six Spanish families Revue Neurologique. 158: 579-588. PMID 12072826 |
0.488 |
|
| 2002 |
Venken K, Di Maria E, Bellone E, Balestra P, Cassandrini D, Mandich P, De Jonghe P, Timmerman V, Svaren J. Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies. Neurogenetics. 4: 37-41. PMID 12030330 DOI: 10.1007/S10048-001-0124-2 |
0.576 |
|
| 2002 |
De Jonghe P, Auer-Grumbach M, Irobi J, Wagner K, Plecko B, Kennerson M, Zhu D, De Vriendt E, Van Gerwen V, Nicholson G, Hartung HP, Timmerman V. Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: Synonyms for the same disorder? Brain. 125: 1320-1325. PMID 12023320 DOI: 10.1093/Brain/Awf127 |
0.421 |
|
| 2001 |
Irobi J, Nelis E, Meuleman J, Venken K, De Jonghe P, Van Broeckhoven C, Timmerman V. Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. Annals of Human Genetics. 65: 517-29. PMID 11851982 DOI: 10.1017/S0003480001008910 |
0.473 |
|
| 2001 |
Kuhlenbäumer G, Meuleman J, De Jonghe P, Falck B, Young P, Hünermund G, Van Broeckhoven C, Timmerman V, Stögbauer F. Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous. Journal of Neurology. 248: 861-5. PMID 11697522 DOI: 10.1007/S004150170070 |
0.381 |
|
| 2001 |
Verhoeven K, Villanova M, Rossi A, Malandrini A, De Jonghe P, Timmerman V. Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1 American Journal of Human Genetics. 69: 889-894. PMID 11533914 DOI: 10.1086/323742 |
0.347 |
|
| 2001 |
Ismailov SM, Fedotov VP, Dadali EL, Polyakov AV, Van Broeckhoven C, Ivanov VI, De Jonghe P, Timmerman V, Evgrafov OV. A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21 European Journal of Human Genetics. 9: 646-650. PMID 11528513 DOI: 10.1038/Sj.Ejhg.5200686 |
0.467 |
|
| 2001 |
Meuleman J, Timmerman V, Van Broeckhoven C, De Jonghe P. Hereditary neuralgic amyotrophy Neurogenetics. 3: 115-118. PMID 11523561 DOI: 10.1007/S100480100109 |
0.407 |
|
| 2001 |
Venken K, Meuleman J, Irobi J, Ceuterick C, Martini R, De Jonghe P, Timmerman V. Caspr1/Paranodin/Neurexin IV is most likely not a common disease-causing gene for inherited peripheral neuropathies. Neuroreport. 12: 2609-14. PMID 11496158 DOI: 10.1097/00001756-200108080-00063 |
0.559 |
|
| 2001 |
Meuleman J, Kuhlenbäumer G, Audenaert D, Hünermund G, Hor H, Young P, Stögbauer F, Ringelstein EB, Van Broeckhoven C, De Jonghe P, Timmerman V. Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA) Human Genetics. 108: 390-393. PMID 11409865 DOI: 10.1007/S004390100510 |
0.546 |
|
| 2001 |
Meuleman J, Pou-Serradell A, Löfgren A, Ceuterick C, Martin JJ, Timmerman V, Van Broeckhoven C, De Jonghe P. A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies. Neuromuscular Disorders : Nmd. 11: 400-3. PMID 11369192 DOI: 10.1016/S0960-8966(00)00214-5 |
0.584 |
|
| 2001 |
Ceuterick-de Groote C, De Jonghe P, Timmerman V, Van Goethem G, Löfgren A, Ceulemans B, Van Broeckhoven C, Martin JJ. Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy. Pathology, Research and Practice. 197: 193-8. PMID 11314784 DOI: 10.1078/0344-0338-00033 |
0.545 |
|
| 2001 |
De Jonghe P, Mersivanova I, Nelis E, Favero JD, Martin JJ, Van Broeckhoven C, Evgrafov O, Timmerman V. Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E Annals of Neurology. 49: 245-249. PMID 11220745 DOI: 10.1002/1531-8249(20010201)49:2<245::Aid-Ana45>3.0.Co;2-A |
0.573 |
|
| 2001 |
Kochanski A, Lofgren A, Jedrzejowska H, Ryniewicz B, Czarny-Ratajczak M, Barciszewska A, Samocko J, Hausmanowa-Petrusewicz I, De Jonghe P, Timmerman V, Latos-Bielenska A. A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease Human Mutation. 17: 157. PMID 11180613 DOI: 10.1002/1098-1004(200102)17:2<157::Aid-Humu22>3.0.Co;2-E |
0.335 |
|
| 2001 |
Muglia M, Zappia M, Timmerman V, Valentino P, Gabriele AL, Conforti FL, De Jonghe P, Ragno M, Mazzei R, Sabatelli M, Nicoletti G, Patitucci AM, Oliveri RL, Bono F, Gambardella A, et al. Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy. Neurology. 56: 100-3. PMID 11148244 DOI: 10.1212/Wnl.56.1.100 |
0.404 |
|
| 2001 |
Meuleman J, Pou-Serradell A, Löfgren A, Ceuterick C, Martin JJ, Timmerman V, Van Broeckhoven C, De Jonghe P. A novel 3′-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies Neuromuscular Disorders. 11: 400-403. DOI: 10.1016/S0960-8966(00)00214-5 |
0.497 |
|
| 2000 |
Leonardis L, Zidar J, Popovič M, Timmerman V, Löfgren A, Broeckhoven CV, Butinar D. Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family. Pflugers Archiv : European Journal of Physiology. 439: r208-r210. PMID 28176125 DOI: 10.1007/S004240000148 |
0.513 |
|
| 2000 |
Meuleman J, Timmerman V, Nelis E, De Jonghe P. Molecular genetics of inherited peripheral neuropathies : Who are the actors ? Acta Neurologica Belgica. 100: 171-180. PMID 11098291 |
0.314 |
|
| 2000 |
Auer-Grumbach M, De Jonghe P, Wagner K, Verhoeven K, Hartung HP, Timmerman V. Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus Neurology. 55: 1552-1557. PMID 11094113 DOI: 10.1212/Wnl.55.10.1552 |
0.424 |
|
| 2000 |
Young P, Stögbauer F, Eller B, De Jonghe P, Löfgren A, Timmerman V, Rautenstrauß B, Oexle K, Grehl H, Kuhlenbäumer G, Van Broeckhoven C, Ringelstein EB, Funke H. PMP22 Thr118Met is not a clinically relevant CMT1 marker Journal of Neurology. 247: 696-700. PMID 11081809 DOI: 10.1007/S004150070113 |
0.547 |
|
| 2000 |
Timmerman V, De Jonghe P, Van Broeckhoven C. Of giant axons and curly hair Nature Genetics. 26: 254-255. PMID 11062452 DOI: 10.1038/81521 |
0.38 |
|
| 2000 |
Stögbauer F, Van Broeckhoven C, Timmerman V. 71st ENMC International Workshop, 6th Workshop of the European Charcot-Marie-Tooth Disease Consortium: Hereditary recurrent focal neuropathies, 24-25 September 1999, Soestduinen, The Netherlands Neuromuscular Disorders. 10: 518-524. PMID 10996785 DOI: 10.1016/S0960-8966(00)00110-3 |
0.305 |
|
| 2000 |
Hargrave M, James K, Nield K, Toomes C, Georgas K, Sullivan T, Verzijl HTFM, Oley CA, Little M, De Jonghe P, Kwon JM, Kremer H, Dixon MJ, Timmerman V, Yamada T, et al. Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases Human Genetics. 106: 432-439. PMID 10830911 DOI: 10.1007/S004390000266 |
0.354 |
|
| 2000 |
Senderek J, Hermanns B, Lehmann U, Bergmann C, Marx G, Kabus C, Timmerman V, Stoltenburg-Didinger G, Schröder JM. Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: Two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible 'hotspot' on Thr124Met Brain Pathology. 10: 235-248. PMID 10764043 DOI: 10.1111/J.1750-3639.2000.Tb00257.X |
0.583 |
|
| 2000 |
Mersiyanova IV, Ismailov SM, Polyakov AV, Dadali EL, Fedotov VP, Nelis E, Löfgren A, Timmerman V, Van Broeckhoven C, Evgrafov OV. Screening for mutations the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients Human Mutation. 15: 340-347. PMID 10737979 DOI: 10.1002/(Sici)1098-1004(200004)15:4<340::Aid-Humu6>3.0.Co;2-Y |
0.599 |
|
| 2000 |
Stögbauer F, Young P, Kuhlenbäumer G, De Jonghe P, Timmerman V. Hereditary recurrent focal neuropathies: Clinical and molecular features Neurology. 54: 546-551. PMID 10680781 DOI: 10.1212/Wnl.54.3.546 |
0.517 |
|
| 2000 |
Leonardis L, Zidar J, Popovič M, Timmerman V, Löfgren A, Van Broeckhoven C, Butinar D. Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family Pflugers Archiv European Journal of Physiology. 439. PMID 10653194 |
0.418 |
|
| 2000 |
Auer-Grumbach M, Wagner K, Timmerman V, De Jonghe P, Hartung HP. Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci Neurology. 54: 45-52. PMID 10636124 DOI: 10.1212/Wnl.54.1.45 |
0.462 |
|
| 2000 |
Paalman MH, Mersiyanova IV, Cotton RGH, Ismailov SM, Kazazian H.H. J, Polyakov AV, Dadali EL, Fedotov VP, Nelis E, Löfgren A, Timmerman V, Van Broeckhoven C, Evgrafov OV. VARIATION, DATABASES, and DISEASE: New directions for Human Mutation Human Mutation. 16: 97-98. |
0.374 |
|
| 1999 |
Meuleman J, Kuhlenbäumer G, Schirmacher A, Wehnert M, Young P, Stögbauer F, Ringelstein EB, VAN Broeckhoven C, Timmerman V. Hereditary Neuralgic Amyotrophy: Mutation Analysis of Candidate Genes. Annals of the New York Academy of Sciences. 883: 443-444. PMID 29086982 DOI: 10.1111/J.1749-6632.1999.Tb08605.X |
0.526 |
|
| 1999 |
Timmerman V, Beuten J, Irobi J, De Jonghe P, Martin JJ, VAN Broeckhoven C. Distal Hereditary Motor Neuropathy Type II (Distal HMN Type II): Phenotype and Molecular Genetics. Annals of the New York Academy of Sciences. 883: 60-64. PMID 29086966 DOI: 10.1111/J.1749-6632.1999.Tb08568.X |
0.501 |
|
| 1999 |
Kuhlenbäumer G, Young P, Kiefer R, Timmerman V, Wang JF, Schroeder JM, Weis J, Ringelstein EB, VAN Broeckhoven C, Stoegbauer F. A Second Family with Autosomal Dominant Burning Feet Syndrome. Annals of the New York Academy of Sciences. 883: 445-448. PMID 29086959 DOI: 10.1111/J.1749-6632.1999.Tb08606.X |
0.327 |
|
| 1999 |
Irobi J, Timmerman V, De Jonghe P, De Vriendt E, VAN Broeckhoven C, Beuten J. Construction of a PAC Contig within the Distal Hereditary Motor Neuropathy Type II Candidate Region at 12q24. Annals of the New York Academy of Sciences. 883: 463-465. PMID 29086955 DOI: 10.1111/J.1749-6632.1999.Tb08611.X |
0.318 |
|
| 1999 |
De Jonghe P, Nelis E, Timmerman V, Löfgren A, Martin JJ, VAN Broeckhoven C. Molecular Diagnostic Testing in Charcot-Marie-Tooth Disease and Related Disorders: Approaches and Results. Annals of the New York Academy of Sciences. 883: 389-396. PMID 29086951 DOI: 10.1111/J.1749-6632.1999.Tb08600.X |
0.531 |
|
| 1999 |
Meuleman J, Kuhlenbäumer G, Schirmacher A, Wehnert M, De Jonghe P, De Vriendt E, Young P, Airaksinen E, Pou-Serradell A, Prats JM, Ringelstein B, Stögbauer F, Van Broeckhoven C, Timmerman V. Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25 European Journal of Human Genetics. 7: 920-927. PMID 10602368 DOI: 10.1038/Sj.Ejhg.5200384 |
0.358 |
|
| 1999 |
Kochański A, Timmerman V, Jȩdrzejowska H, Ryniewicz B, Löfgren A, De Vriendt E, Van Broeckhoven C, Latos-Bieleńska A, Hausmanowa-Petrusewicz I. Mutation screening of Charcot-Marie-Tooth patients in Poland Annals of the New York Academy of Sciences. 883: 493-496. PMID 10586282 DOI: 10.1111/J.1749-6632.1999.Tb08619.X |
0.462 |
|
| 1999 |
Meuleman J, Kuhlenbäumer G, Schirmacher A, Wehnert M, Young P, Stögbauer F, Ringelstein EB, Van Broeckhoven C, Timmerman V. Hereditary neuralgic amyotrophy: Mutation analysis of candidate genes Annals of the New York Academy of Sciences. 883: 443-444. PMID 10586268 |
0.434 |
|
| 1999 |
De Jonghe P, Nelis E, Timmerman V, Löfgren A, Martin JJ, Van Broeckhoven C. Molecular diagnostic testing in Charcot-Marie-Tooth disease and related disorders: Approaches and results Annals of the New York Academy of Sciences. 883: 389-396. PMID 10586263 |
0.439 |
|
| 1999 |
Timmerman V, Beuten J, Irobi J, De Jonghe P, Martin JJ, Van Broeckhoven C. Distal hereditary motor neuropathy type II (distal HMN type II): Phenotype and molecular genetics Annals of the New York Academy of Sciences. 883: 60-64. PMID 10586231 |
0.403 |
|
| 1999 |
Nelis E, Timmerman V, De Jonghe P, Van Broeckhoven C, Rautenstrauss B. Molecular genetics and biology of inherited peripheral neuropathies: A fast-moving field Neurogenetics. 2: 137-148. PMID 10541586 DOI: 10.1007/S100480050074 |
0.532 |
|
| 1999 |
De Jonghe P, Timmerman V, Nelis E, De Vriendt E, Löfgren A, Centerich C, Martin JJ, Van Broechhoven C. A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype Archives of Neurology. 56: 1283-1288. PMID 10520946 DOI: 10.1001/Archneur.56.10.1283 |
0.462 |
|
| 1999 |
Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Lofgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype Neurology. 52: 1827-1832. PMID 10371530 DOI: 10.1212/Wnl.52.9.1827 |
0.575 |
|
| 1999 |
Stögbauer F, Young P, Kuhlenbäumer G, Kiefer R, Timmerman V, Ringelstein EB, Wang JF, Schröder JM, Van Broeckhoven C, Weis J. Autosomal dominant burning feet syndrome Journal of Neurology Neurosurgery and Psychiatry. 67: 78-81. PMID 10369826 DOI: 10.1136/Jnnp.67.1.78 |
0.417 |
|
| 1999 |
Bähr M, Andres F, Timmerman V, Nelis ME, Van Broeckhoven C, Dichgans J. Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene. Journal of Neurology, Neurosurgery, and Psychiatry. 66: 202-6. PMID 10071100 DOI: 10.1136/Jnnp.66.2.202 |
0.555 |
|
| 1999 |
De Jonghe P, Timmerman V, Ceuterick C, Nelis E, De Vriendt E, Löfgren A, Vercruyssen A, Verellen C, Van Maldergem L, Martin JJ, Van Broeckhoven C. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype Brain. 122: 281-290. PMID 10071056 DOI: 10.1093/Brain/122.2.281 |
0.56 |
|
| 1998 |
Kuhlenbaeumer G, Meuleman J, Schirmacher A, Stoegbauer F, Ringelstein EB, Wehnert M, Hoeltzenbein M, Van Broeckhoven G, Timmerman V. Mutation analysis of a putative sialyltransferase gene, the SFRS2 splicing factor gene and the c-myb ET-locus in two families with hereditary neuralgic amyotrophy (HNA) Annals of Human Genetics. 62: 397-400. PMID 10088036 DOI: 10.1046/J.1469-1809.1998.6250397.X |
0.509 |
|
| 1998 |
De Jonghe P, Timmerman V, Van Broeckhoven C. 2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (Distal HMN-Spinal CMT), Naarden, the Netherlands, 26-28 September 1997 Neuromuscular Disorders. 8: 426-431. PMID 9713862 DOI: 10.1016/S0960-8966(98)00025-X |
0.321 |
|
| 1998 |
Stögbauer F, Young P, Kuhlenbäumer G, Meuleman J, Timmerman V, Van Broeckhoven C, Kurlemann G, Ringelstein EB. Hereditary neuralgic amyotrophy (HNA): Clinical findings and molecular genetics Fortschritte Der Neurologie Psychiatrie. 66: 10-14. PMID 9530552 DOI: 10.1055/S-2007-995234 |
0.357 |
|
| 1998 |
Young P, Stögbauer F, Wiebusch H, Löfgren A, Timmerman V, Van Broeckhoven C, Ringelstein EB, Assmann G, Funke H. PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A Neurology. 50: 760-763. PMID 9521270 DOI: 10.1212/Wnl.50.3.760 |
0.39 |
|
| 1998 |
Michels-Rautenstrauss KG, Mardin CY, Budde WM, Liehr T, Polansky J, Nguyen T, Timmerman V, Van Broeckhoven C, Naumann GOH, Pfeiffer RA, Rautenstrauss BW. Juvenile open angle glaucoma: Fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis Human Genetics. 102: 103-106. PMID 9490287 DOI: 10.1007/S004390050661 |
0.499 |
|
| 1998 |
Stögbauer F, Young P, Wiebusch H, Timmerman V, Kuhlenbäumer G, Nelis E, Ringelstein EB, Kurlemann G, Assmann G, Van Broeckhoven C, Funke H. Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome Neuroscience Letters. 240: 1-4. PMID 9488160 DOI: 10.1016/S0304-3940(97)00887-2 |
0.609 |
|
| 1997 |
De Jonghe P, Timmerman V, Nelis E, Martin JJ, Van Broeckhoven C. Charcot-Marie-Tooth disease and related peripheral neuropathies Journal of the Peripheral Nervous System. 2: 370-387. PMID 10975746 |
0.449 |
|
| 1997 |
Müller HW, Suter U, Van Broeckhoven C, Hanemann CO, Nelis E, Timmerman V, Sancho S, Barrio L, Bolhuis P, Dermietzel R, Frank M, Gabreëls-Festen A, Gillen C, Haites N, Levi G, et al. Advances in Charcot-Marie-Tooth disease research: cellular function of CMT-related proteins, transgenic animal models, and pathomechanisms. The European CMT Consortium. Neurobiology of Disease. 4: 215-20. PMID 9361297 DOI: 10.1006/Nbdi.1997.0148 |
0.347 |
|
| 1997 |
De Jonghe P, Timmerman V, FitzPatrick D, Spoelders P, Martin JJ, Van Broeckhoven C. Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family Journal of Neurology Neurosurgery and Psychiatry. 62: 570-573. PMID 9219740 DOI: 10.1136/Jnnp.62.6.570 |
0.406 |
|
| 1997 |
Wehnert M, Timmerman V, Spoelders P, Meuleman J, Nelis E, Van Broeckhoven C. Further evidence supporting linkage of hereditary neuralgic amyotrophy to chromosome 17q Neurology. 48: 1719-1721. PMID 9191796 DOI: 10.1212/Wnl.48.6.1719 |
0.303 |
|
| 1997 |
Bort S, Nelis E, Timmerman V, Sevilla T, Cruz-Martínez A, Martínez F, Millán JM, Arpa J, Vílchez JJ, Prieto F, Van Broeckhoven C, Palau F. Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies Human Genetics. 99: 746-754. PMID 9187667 DOI: 10.1007/S004390050442 |
0.584 |
|
| 1997 |
Beuten J, De Vriendt E, De Jonghe P, Martin JJ, Van Broeckhoven C, Timmerman V. Mutation analysis of the human pancreatic phospholipase A2 gene in a family with distal hereditary motor neuropathy type II linked to 12q24 Neuroscience Letters. 223: 69-71. PMID 9058425 DOI: 10.1016/S0304-3940(97)13400-0 |
0.493 |
|
| 1997 |
Timmerman V, Rautenstrauss B, Reiter LT, Koeuth T, Löfgren A, Liehr T, Nelis E, Bathke KD, De Jonghe P, Grehl H, Martin JJ, Lupski JR, Van Broeckhoven C. Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent Journal of Medical Genetics. 34: 43-49. PMID 9032649 DOI: 10.1136/Jmg.34.1.43 |
0.346 |
|
| 1997 |
Nelis E, Simokovic S, Timmerman V, Löfgren A, Backhovens H, De Jonghe P, Martin JJ, Van Broeckhoven C. Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-tooth neuropathy type 1: Identification of five new mutations Human Mutation. 9: 47-52. PMID 8990008 DOI: 10.1002/(Sici)1098-1004(1997)9:1<47::Aid-Humu8>3.0.Co;2-M |
0.553 |
|
| 1997 |
Jonghe PD, Nelis E, Lofgren A, Vriendt ED, Timmerman V, Ceuterick C, Martin J-, Broeckhoven CV. Clinical, electrophysiological and neuropathological findings in an autosomal dominant CMTIC family Neuromuscular Disorders. 7: 466. DOI: 10.1016/S0960-8966(97)87321-X |
0.338 |
|
| 1996 |
Silander K, Meretoja P, Nelis E, Timmerman V, Van Broeckhoven C, Aula P, Savontaus ML. A de novo duplication in 17p11.2 and a Novel mutation in the P(o) gene in two Dejerine-Sottas syndrome patients Human Mutation. 8: 304-310. PMID 8956034 DOI: 10.1002/(Sici)1098-1004(1996)8:4<304::Aid-Humu2>3.0.Co;2-7 |
0.578 |
|
| 1996 |
Chapon F, Diraison P, Lechevalier B, Chazot G, Viader F, Bonnebouche C, Vandenberghe A, Timmerman V, Van Broeckhoven C. Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A [8] Journal of Neurology Neurosurgery and Psychiatry. 61: 535-536. PMID 8937360 DOI: 10.1136/Jnnp.61.5.535 |
0.318 |
|
| 1996 |
Timmerman V, De Jonghe P, Simokovic S, Löfgren A, Beuten J, Nelis E, Ceuterick C, Martin JJ, Van Broeckhoven C. Distal hereditary motor neuropathy type II (distal HMN II): Mapping of a locus to chromosome 12q24 Human Molecular Genetics. 5: 1065-1069. PMID 8817349 DOI: 10.1093/Hmg/5.7.1065 |
0.387 |
|
| 1996 |
Timmerman V, De Jonghe P, Spoelders P, Simokovic S, Löfgren A, Nelis E, Vance J, Martin JJ, Van Broeckhoven C. Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13 Neurology. 46: 1311-1318. PMID 8628473 DOI: 10.1212/Wnl.46.5.1311 |
0.487 |
|
| 1996 |
Timmerman V, Löfgren A, Le Guern E, Liang P, De Jonghe P, Martin JJ, Verhalle D, Robberecht W, Gouider R, Brice A, Van Broeckhoven C. Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP) Human Genetics. 97: 26-34. PMID 8557256 DOI: 10.1007/Bf00218828 |
0.345 |
|
| 1996 |
Löfgren A, Timmerman V, Nelis E, Jonghe Pd, Martin J-, Broeckhoven CV. Screening for mutations in charcotmarie-tooth type 1A (CMT1A) disease and hereditary neuropathy with liability to pressure palsies (HNPP) Neuromuscular Disorders. 6. DOI: 10.1016/0960-8966(96)89012-2 |
0.434 |
|
| 1995 |
Navon R, Timmerman V, Löfgren A, Liang P, Nelis E, Zeitune M, Van Broeckhoven C. Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques. Prenatal Diagnosis. 15: 633-40. PMID 8532623 DOI: 10.1002/Pd.1970150708 |
0.376 |
|
| 1994 |
Nells E, Timmerman V, De Jonghe P, Van Broeckhoven C. Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant charcot - marie - tooth disease type 1 Human Molecular Genetics. 3: 515-516. PMID 8012365 DOI: 10.1093/Hmg/3.3.515 |
0.528 |
|
| 1994 |
Nelis E, Timmerman V, De Jonghe P, Muylle L, Martin JJ, Van Broeckhoven C. Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B. Journal of Medical Genetics. 31: 811-5. PMID 7530774 DOI: 10.1136/Jmg.31.10.811 |
0.538 |
|
| 1994 |
Nelis E, Timmerman V, De Jonghe P, Vandenberghe A, Pham-Dinh D, Dautigny A, Martin JJ, Van Broeckhoven C. Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene Human Genetics. 94: 653-657. PMID 7527371 DOI: 10.1007/Bf00206959 |
0.586 |
|
| 1992 |
Raeymaekers P, Timmerman V, Nelis E, Hul WV, Jonghe PD, Martin JJ, Broeckhoven CV. Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. Journal of Medical Genetics. 29: 5-11. PMID 1552545 DOI: 10.1136/Jmg.29.1.5 |
0.36 |
|
| 1992 |
Timmerman V, Raeymaekers P, Nelis E, De Jonghe P, Muylle L, Ceuterick C, Martin JJ, Van Broeckhoven C. Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree Journal of the Neurological Sciences. 109: 41-48. PMID 1517763 DOI: 10.1016/0022-510X(92)90091-X |
0.374 |
|
| 1992 |
Timmerman V, Nelis E, Van Hui W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO, De Jonghe P, Raeymaekers P, Van Ommen GJB, Martin JJ, Müller HW, et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-marie-tooth disease type 1A duplication Nature Genetics. 1: 171-175. PMID 1303230 DOI: 10.1038/Ng0692-171 |
0.5 |
|
| 1991 |
Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscular Disorders : Nmd. 1: 93-7. PMID 1822787 DOI: 10.1016/0960-8966(91)90055-W |
0.447 |
|
| 1989 |
Raeymaekers P, Timmerman V, De Jonghe P, Swerts L, Gheuens J, Martin JJ, Muylle L, De Winter G, Vandenberghe A, Van Broeckhoven C. Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I) American Journal of Human Genetics. 45: 953-958. PMID 2589322 |
0.34 |
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