| Year |
Citation |
Score |
| 2021 |
Smolders S, Philtjens S, Crosiers D, Sieben A, Hens E, Heeman B, Van Mossevelde S, Pals P, Asselbergh B, Dos Santos Dias R, Vermeiren Y, Vandenberghe R, Engelborghs S, De Deyn PP, Martin JJ, et al. Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease. Acta Neuropathologica Communications. 9: 25. PMID 33579389 DOI: 10.1186/s40478-021-01121-w |
0.324 |
|
| 2018 |
Eidhof I, Baets J, Kamsteeg EJ, Deconinck T, van Ninhuijs L, Martin JJ, Schüle R, Züchner S, De Jonghe P, Schenck A, van de Warrenburg BP. GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. Brain : a Journal of Neurology. PMID 30084953 DOI: 10.1093/Brain/Awy198 |
0.308 |
|
| 2018 |
Sieben A, Van Mossevelde S, Wauters E, Engelborghs S, van der Zee J, Van Langenhove T, Santens P, Praet M, Boon P, Miatton M, Van Hoecke S, Vandenbulcke M, Vandenberghe R, Cras P, Cruts M, ... ... Martin JJ, et al. Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family. Alzheimer's Research & Therapy. 10: 7. PMID 29370838 DOI: 10.1186/S13195-017-0334-Y |
0.3 |
|
| 2016 |
Van den Bossche T, Sleegers K, Cuyvers E, Engelborghs S, Sieben A, De Roeck A, Van Cauwenberghe C, Vermeulen S, Van den Broeck M, Laureys A, Peeters K, Mattheijssens M, Vandenbulcke M, Vandenberghe R, Martin JJ, et al. Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation. Neurology. PMID 27037232 DOI: 10.1212/Wnl.0000000000002628 |
0.336 |
|
| 2014 |
Semmler AL, Sacconi S, Bach JE, Liebe C, Bürmann J, Kley RA, Ferbert A, Anderheiden R, Van den Bergh P, Martin JJ, De Jonghe P, Neuen-Jacob E, Müller O, Deschauer M, Bergmann M, et al. Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. Orphanet Journal of Rare Diseases. 9: 121. PMID 25208129 DOI: 10.1186/s13023-014-0121-9 |
0.348 |
|
| 2014 |
van der Zee J, Van Langenhove T, Kovacs GG, Dillen L, Deschamps W, Engelborghs S, Mat?j R, Vandenbulcke M, Sieben A, Dermaut B, Smets K, Van Damme P, Merlin C, Laureys A, Van Den Broeck M, ... ... Martin JJ, et al. Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. Acta Neuropathologica. 128: 397-410. PMID 24899140 DOI: 10.1007/S00401-014-1298-7 |
0.304 |
|
| 2013 |
Dohrn MF, Röcken C, De Bleecker JL, Martin JJ, Vorgerd M, Van den Bergh PY, Ferbert A, Hinderhofer K, Schröder JM, Weis J, Schulz JB, Claeys KG. Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy. Journal of Neurology. 260: 3093-108. PMID 24101130 DOI: 10.1007/s00415-013-7124-7 |
0.315 |
|
| 2013 |
Van Langenhove T, van der Zee J, Gijselinck I, Engelborghs S, Vandenberghe R, Vandenbulcke M, De Bleecker J, Sieben A, Versijpt J, Ivanoiu A, Deryck O, Willems C, Dillen L, Philtjens S, Maes G, ... ... Martin JJ, et al. Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. Jama Neurology. 70: 365-73. PMID 23338682 DOI: 10.1001/2013.Jamaneurol.181 |
0.339 |
|
| 2012 |
Scalais E, Francois B, Schlesser P, Stevens R, Nuttin C, Martin JJ, Van Coster R, Seneca S, Roels F, Van Goethem G, Löfgren A, De Meirleir L. Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 16: 542-8. PMID 22342071 DOI: 10.1016/j.ejpn.2012.01.013 |
0.678 |
|
| 2009 |
van der Zee J, Pirici D, Van Langenhove T, Engelborghs S, Vandenberghe R, Hoffmann M, Pusswald G, Van den Broeck M, Peeters K, Mattheijssens M, Martin JJ, De Deyn PP, Cruts M, Haubenberger D, Kumar-Singh S, et al. Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His. Neurology. 73: 626-32. PMID 19704082 DOI: 10.1212/Wnl.0B013E3181B389D9 |
0.375 |
|
| 2009 |
Roels F, Verloo P, Eyskens F, François B, Seneca S, De Paepe B, Martin JJ, Meersschaut V, Praet M, Scalais E, Espeel M, Smet J, Van Goethem G, Van Coster R. Mitochondrial mosaics in the liver of 3 infants with mtDNA defects. Bmc Clinical Pathology. 9: 4. PMID 19500334 DOI: 10.1186/1472-6890-9-4 |
0.659 |
|
| 2008 |
Brouwers N, Sleegers K, Engelborghs S, Maurer-Stroh S, Gijselinck I, van der Zee J, Pickut BA, Van den Broeck M, Mattheijssens M, Peeters K, Schymkowitz J, Rousseau F, Martin JJ, Cruts M, De Deyn PP, et al. Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease. Neurology. 71: 656-64. PMID 18565828 DOI: 10.1212/01.Wnl.0000319688.89790.7A |
0.335 |
|
| 2008 |
Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, Estournet B, Ferreiro A, Romero N, Laquerriere A, Lazaro L, Martin JJ, Morava E, Rossi A, Van der Kooi A, et al. Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Human Mutation. 29: 670-8. PMID 18253926 DOI: 10.1002/humu.20696 |
0.332 |
|
| 2007 |
Scalais E, Nuttin C, Seneca S, Smet J, Paepe BD, Martin J-, Stevens R, Pierart F, Battisti O, Lissens W, Meirleir LD, Coster RV. Infantile presentation of the mitochondrial A8344G mutation. European Journal of Neurology. 14: 3-5. PMID 17956438 DOI: 10.1111/J.1468-1331.2007.01926.X |
0.425 |
|
| 2007 |
Paepe BD, Smet J, Lammens M, Seneca S, Martin J, Bleecker JD, Coster RV. M.P.1.01 Immunohistochemical studies of oxidative phosphorylation in skeletal muscle of patients with mitochondrial tRNA gene mutations Neuromuscular Disorders. 17: 767-768. DOI: 10.1016/J.Nmd.2007.06.026 |
0.39 |
|
| 2006 |
Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, Rademakers R, Vandenberghe R, Dermaut B, Martin JJ, van Duijn C, Peeters K, Sciot R, Santens P, De Pooter T, et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature. 442: 920-4. PMID 16862115 DOI: 10.1038/Nature05017 |
0.309 |
|
| 2006 |
van der Zee J, Rademakers R, Engelborghs S, Gijselinck I, Bogaerts V, Vandenberghe R, Santens P, Caekebeke J, De Pooter T, Peeters K, Lübke U, Van den Broeck M, Martin JJ, Cruts M, De Deyn PP, et al. A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD. Brain : a Journal of Neurology. 129: 841-52. PMID 16495329 DOI: 10.1093/Brain/Awl029 |
0.309 |
|
| 2005 |
Bitoun M, Maugenre S, Jeannet P, Lacène E, Ferrer X, Laforêt P, Martin J, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Mutations in dynamin 2 cause dominant centronuclear myopathy Nature Genetics. 37: 1207-1209. PMID 16227997 DOI: 10.1038/Ng1657 |
0.303 |
|
| 2005 |
Laing NG, Ceuterick-de Groote C, Dye DE, Liyanage K, Duff RM, Dubois B, Robberecht W, Sciot R, Martin JJ, Goebel HH. Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. Neurology. 64: 527-9. PMID 15699387 DOI: 10.1212/01.Wnl.0000150581.37514.30 |
0.378 |
|
| 2004 |
Van Goethem G, Luoma P, Rantamäki M, Al Memar A, Kaakkola S, Hackman P, Krahe R, Löfgren A, Martin JJ, De Jonghe P, Suomalainen A, Udd B, Van Broeckhoven C. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology. 63: 1251-7. PMID 15477547 DOI: 10.1212/01.Wnl.0000140494.58732.83 |
0.401 |
|
| 2004 |
Dermaut B, Kumar-Singh S, Engelborghs S, Theuns J, Rademakers R, Saerens J, Pickut BA, Peeters K, van den Broeck M, Vennekens K, Claes S, Cruts M, Cras P, Martin JJ, Van Broeckhoven C, et al. A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. Annals of Neurology. 55: 617-26. PMID 15122701 DOI: 10.1002/Ana.20083 |
0.321 |
|
| 2004 |
Michalik A, Martin J-, Broeckhoven CV. Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. European Journal of Human Genetics. 12: 2-15. PMID 14571264 DOI: 10.1038/Sj.Ejhg.5201108 |
0.356 |
|
| 2003 |
Van Goethem G, Mercelis R, Löfgren A, Seneca S, Ceuterick C, Martin JJ, Van Broeckhoven C. Patient homozygous for a recessive POLG mutation presents with features of MERRF. Neurology. 61: 1811-3. PMID 14694057 |
0.371 |
|
| 2003 |
Van Goethem G, Löfgren A, Dermaut B, Ceuterick C, Martin JJ, Van Broeckhoven C. Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. Human Mutation. 22: 175-6. PMID 12872260 DOI: 10.1002/Humu.10246 |
0.693 |
|
| 2003 |
Van Goethem G, Martin JJ, Van Broeckhoven C. Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification. Neuromolecular Medicine. 3: 129-46. PMID 12835509 DOI: 10.1385/NMM:3:3:129 |
0.718 |
|
| 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, 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 |
0.33 |
|
| 2003 |
Van Goethem G, Martin JJ, Dermaut B, Löfgren A, Wibail A, Ververken D, Tack P, Dehaene I, Van Zandijcke M, Moonen M, Ceuterick C, De Jonghe P, Van Broeckhoven C. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscular Disorders : Nmd. 13: 133-42. PMID 12565911 DOI: 10.1016/S0960-8966(02)00216-X |
0.503 |
|
| 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 |
0.313 |
|
| 2002 |
Van Goethem G, Martin JJ, Van Broeckhoven C. Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions. Acta Neurologica Belgica. 102: 39-42. PMID 12094562 |
0.71 |
|
| 2001 |
Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nature Genetics. 28: 211-2. PMID 11431686 DOI: 10.1038/90034 |
0.361 |
|
| 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 |
0.384 |
|
| 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 |
0.308 |
|
| 1999 |
Martin J-, Martin L, Löfgren A, D’Hooghe M, Storm K, Balemans W, Palau F, Broeckhoven Cv. Classical Friedreich's ataxia and its genotype. European Neurology. 42: 109-115. PMID 10473983 DOI: 10.1159/000069420 |
0.351 |
|
| 1998 |
Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Crow YJ, Stephenson JB, Williams RE, Hofman IL, Taschner PE, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, et al. Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Human Molecular Genetics. 7: 291-7. PMID 9425237 DOI: 10.1093/Hmg/7.2.291 |
0.332 |
|
| 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 |
0.353 |
|
| 1994 |
Martin JJ, Krols L, Ceuterick C, Van Broeckhoven C, Van Regemorter N, Hayer-Delatte F, Brucher JM, de Barsy T, Szliwowski H, Evrard P, Tassignon MJ, Smet-Dieleman H, Willems PJ. On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family Acta Neuropathologica. 88: 277-286. PMID 7839819 DOI: 10.1007/Bf00310370 |
0.311 |
|
| 1992 |
Hoogendijk JE, Hensels GW, Janssen EAM, Valentijn LJ, Baas F, Visser Md, Bolhuis PA, Gabreels-Festen AAWM, Gabreels FJM, onghe Pd, Martin J-, Broeckhoven Cv. De-novo mutation in hereditary motor and sensory neuropathy type I. The Lancet. 339: 1081-1082. PMID 1349106 DOI: 10.1016/0140-6736(92)90668-S |
0.385 |
|
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