Vincent Timmerman - Publications

Affiliations: 
Universiteit Antwerpen (Belgium) 
Area:
Audiology, Epidemiology

216 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
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  0.48
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  0.36
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  0.36
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  0.36
2018 Juneja M, Azmi A, Baets J, Roos A, Jennings MJ, Saveri P, Pisciotta C, Bernard-Marissal N, Schneider BL, Verfaillie C, Chrast R, Seeman P, Hahn AF, de Jonghe P, Maudsley S, ... ... Timmerman V, et al. PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 29449460 DOI: 10.1136/jnnp-2017-317562  0.36
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  0.36
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  0.36
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  0.36
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  0.48
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  0.36
2016 Geuens T, Bouhy D, Timmerman V. The hnRNP family: insights into their role in health and disease. Human Genetics. PMID 27215579 DOI: 10.1007/s00439-016-1683-5  0.48
2016 Krols M, van Isterdael G, Asselbergh B, Kremer A, Lippens S, Timmerman V, Janssens S. Mitochondria-associated membranes as hubs for neurodegeneration. Acta Neuropathologica. PMID 26744348 DOI: 10.1007/s00401-015-1528-7  0.48
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  0.48
2015 Ydens E, Demon D, Lornet G, De Winter V, Timmerman V, Lamkanfi M, Janssens S. Nlrp6 promotes recovery after peripheral nerve injury independently of inflammasomes. Journal of Neuroinflammation. 12: 143. PMID 26253422 DOI: 10.1186/s12974-015-0367-8  0.48
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  0.48
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  0.48
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  0.48
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  0.48
2014 Baets J, De Jonghe P, Timmerman V. Recent advances in Charcot-Marie-Tooth disease. Current Opinion in Neurology. 27: 532-40. PMID 25110935 DOI: 10.1097/WCO.0000000000000131  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.36
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  0.48
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  0.48
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  0.48
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  0.48
2013 Almeida-Souza L, Asselbergh B, De Winter V, Goethals S, Timmerman V, Janssens S. HSPB1 facilitates the formation of non-centrosomal microtubules. Plos One. 8: e66541. PMID 23826100 DOI: 10.1371/journal.pone.0066541  0.48
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  0.48
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  0.48
2013 Ydens E, Lornet G, Smits V, Goethals S, Timmerman V, Janssens S. The neuroinflammatory role of Schwann cells in disease. Neurobiology of Disease. 55: 95-103. PMID 23523637 DOI: 10.1016/j.nbd.2013.03.005  0.48
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  0.48
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  0.48
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  0.48
2012 Holmgren A, Bouhy D, Timmerman V. Neurofilament phosphorylation and their proline-directed kinases in health and disease. Journal of the Peripheral Nervous System : Jpns. 17: 365-76. PMID 23279337 DOI: 10.1111/j.1529-8027.2012.00434.x  0.48
2012 ZimoÅ„ M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, BattaloÄŸlu 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  0.48
2012 Ydens E, Cauwels A, Asselbergh B, Goethals S, Peeraer L, Lornet G, Almeida-Souza L, Van Ginderachter JA, Timmerman V, Janssens S. Acute injury in the peripheral nervous system triggers an alternative macrophage response. Journal of Neuroinflammation. 9: 176. PMID 22818207 DOI: 10.1186/1742-2094-9-176  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
2012 Ydens E, Lornet G, Smits V, Goethals S, Timmerman V, Janssens S. The neuroinflammatory role of schwann cells in health and disease Microglia: Biology, Functions and Roles in Disease. 277-303.  0.48
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  0.48
2011 Baets J, Deconinck T, De Vriendt E, ZimoÅ„ 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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
2010 Goethals S, Ydens E, Timmerman V, Janssens S. Toll-like receptor expression in the peripheral nerve. Glia. 58: 1701-9. PMID 20578041 DOI: 10.1002/glia.21041  0.48
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  0.48
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  0.48
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  0.48
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  0.48
2010 Martinet W, De Meyer I, Cools N, Timmerman V, Bult H, Bosmans J, De Meyer GR. Cell death-mediated cleavage of the attraction signal p43 in human atherosclerosis: implications for plaque destabilization. Arteriosclerosis, Thrombosis, and Vascular Biology. 30: 1415-22. PMID 20413730 DOI: 10.1161/ATVBAHA.110.206029  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.36
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
2007 Kochański A, Dierick I, Timmerman V, Hausmanowa-Petrusewicz I. [Silver syndrome--case report]. Neurologia I Neurochirurgia Polska. 41: 562-6. PMID 18224579  0.48
2007 Van Damme P, Bogaert E, Dewil M, Hersmus N, Kiraly D, Scheveneels W, Bockx I, Braeken D, Verpoorten N, Verhoeven K, Timmerman V, Herijgers P, Callewaert G, Carmeliet P, Van Den Bosch L, et al. Astrocytes regulate GluR2 expression in motor neurons and their vulnerability to excitotoxicity. Proceedings of the National Academy of Sciences of the United States of America. 104: 14825-30. PMID 17804792 DOI: 10.1073/pnas.0705046104  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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:8:1:131  0.48
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:8:1:1  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
2006 Timmerman V, Lupski JR. The CMT1A duplication and HNPP deletion Genomic Disorders: the Genomic Basis of Disease. 169-178. DOI: 10.1007/978-1-59745-039-3_11  0.48
2006 Lupski JR, Timmerman V. The CMT1A duplication a historical perspective viewed from two sides of an ocean Genomic Disorders: the Genomic Basis of Disease. 3-17. DOI: 10.1007/978-1-59745-039-3_1  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
2005 Nelis E, De Jonghe P, Timmerman V. Charcot-Marie-Tooth disease type 1 (CMT1) and hereditary neuropathy with liability to pressure palsy (HNPP) Hereditary Peripheral Neuropathies. 92-120. DOI: 10.1007/3-7985-1586-7_6  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
2003 De Jonghe P, Timmerman V. Anti-steroid takes aim at neuropathy. Nature Medicine. 9: 1457-8. PMID 14647517 DOI: 10.1038/nm1203-1457  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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: doi:10.1017/S0003480001008910  0.48
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  0.48
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  0.48
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  0.48
2001 Meuleman J, Timmerman V, Van Broeckhoven C, De Jonghe P. Hereditary neuralgic amyotrophy Neurogenetics. 3: 115-118. PMID 11523561 DOI: 10.1007/s100480100109  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
2001 Rautenstrauß B, Lupski JR, Timmerman V. European guidelines for molecular genetic diagnosis of Charcot-Marie-Tooth disease type 1A and of tomaculous neuropathy Medizinische Genetik. 13: 309-314.  0.48
2001 Nelis E, Irobi J, De Vriendt E, Van Gerwen V, Perez Novo C, Topaloglu H, Auer-Grumbach M, Merlin L, Villanova M, Jordanova A, De Jonghe P, Timmerman V. Homozygosity mapping of families with recessive Charcot-Marie-Tooth neuropathies Acta Myologica. 20: 39-42.  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
2000 Kuhlenbäumer G, Stögbauer F, Timmerman V, De Jonghe P. Diagnostic guidelines for hereditary neuralgic amyotrophy or heredofamilial neuritis with brachial plexus predilection Neuromuscular Disorders. 10: 515-517. PMID 10996784 DOI: 10.1016/S0960-8966(00)00109-7  0.48
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  0.48
2000 Irobi J, Tissir F, De Jonghe P, De Vriendt E, Van Broeckhoven C, Timmerman V, Beuten J. A clone contig of 12q24.3 Encompassing the distal hereditary motor neuropathy type II gene Genomics. 65: 34-43. PMID 10777663 DOI: 10.1006/geno.2000.6149  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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.  0.48
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  0.48
1999 Timmerman V, De Jonghe P, Van Broeckhoven C. Report of the 8th Annual Symposium of the European Charcot-Marie-Tooth Consortium, Antwerpen, Belgium, July 2-4, 1999 Journal of the Peripheral Nervous System. 4: 279-282. PMID 10642096  0.48
1999 Kuhlenbäumer G, Schirmacher A, Meuleman J, Tissir F, Del-Favero J, Stögbauer F, Young P, Ringelstein B, Van Broeckhoven C, Timmerman V. A sequence-ready BAC/PAC contig and partial transcript map of approximately 1.5 Mb in human chromosome 17q25 comprising multiple disease genes Genomics. 62: 242-250. PMID 10610718 DOI: 10.1006/geno.1999.5991  0.48
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  0.48
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  0.48
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 10586274  0.48
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 10586269  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
1999 Stronach EA, Clark C, Bell C, Löfgren A, McKay NG, Timmerman V, Van Broeckhoven C, Haites NE. Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies Journal of the Peripheral Nervous System. 4: 117-122. PMID 10442687  0.48
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  0.48
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  0.48
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  0.48
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  0.48
1999 Kochański AM, Lofgren A, Timmerman V, Jȩdrzejowska H, Fidzianska A, Latos-Bieleńska A, Van Broeckhoven C, Hausmanowa-Petrusewicz I. Molecular genetic diagnosis of the 1.5 Mb deletion causing hereditary neuropathy with liability to pressure palsies (HNPP) in a Polish family Journal of Applied Genetics. 40: 249-255.  0.48
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: 10.1017/S000348009800709X  0.48
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  0.48
1998 Villanova M, Timmerman V, De Jonghe P, Malandrini A, Rizzuto N, Van Broeckhoven C, Guazzi G, Rossi A. Charcot-Marie-Tooth disease: an intermediate form. Neuromuscular Disorders : Nmd. 8: 392-3. PMID 9713856 DOI: 10.1016/S0960-8966(98)00044-3  0.48
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  0.48
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  0.48
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  0.48
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  0.48
1998 Timmerman V, De Jonghe P, Van Broeckhoven C. Report of the 7th Annual Symposium of the European Charcot-Marie-Tooth Consortium, Antwerpen, Belgium, July 3-5, 1998 Journal of the Peripheral Nervous System. 3: 283-285.  0.48
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  0.48
1997 Marichal P, Vanden Bossche H, Odds FC, Nobels G, Warnock DW, Timmerman V, Van Broeckhoven C, Fay S, Mose-Larsen P. Molecular biological characterization of an azole-resistant Candida glabrata isolate. Antimicrobial Agents and Chemotherapy. 41: 2229-37. PMID 9333053  0.48
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  0.48
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  0.48
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  0.48
1997 Stögbauer F, Young P, Timmerman V, Spoelders P, Ringelstein EB, Van Broeckhoven C, Kurlemann G. Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25 Human Genetics. 99: 685-687. PMID 9150742 DOI: 10.1007/s004390050430  0.48
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  0.48
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  0.48
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  0.48
1997 Young P, Stogbauer F, Wiebusch H, Lofgren 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 (HNPP) and Charcot-Marie-Tooth disease type 1A (CMT1A) European Journal of Clinical Chemistry and Clinical Biochemistry. 35.  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
1994 Matise TC, Chakravarti A, Patel PI, Lupski JR, Nelis E, Timmerman V, Van Broeckhoven C, Weeks DE. Detection of tandem duplications and implications for linkage analysis American Journal of Human Genetics. 54: 1110-1121. PMID 8198134  0.48
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  0.48
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  0.48
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  0.48
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  0.48
1992 De Jonghe P, Raeymaekers P, Timmerman V, Nelis E, Martin JJ, Van Broeckhoven C. Charcot-Marie-Tooth neuropathy type 1a (CMT1a) is caused by a duplication in chromosome 17 Clinical Neurology and Neurosurgery. 94: 76. DOI: 10.1016/0303-8467(92)90129-Q  0.48
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  0.48
1990 Timmerman V, Raeymaekers P, De Jonghe P, De Winter G, Swerts L, Jacobs K, Gheuens J, Martin JJ, Vandenberghe A, Van Broeckhoven C. Assignment of the charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12 American Journal of Human Genetics. 47: 680-685. PMID 2220808  0.48
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  0.48
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