Martin JJ - Search Results

1

CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia.

Fujigasaki H, Martin JJ, De Deyn PP, Camuzat A, Deffond D, Stevanin G, Dermaut B, Van Broeckhoven C, Dürr A, Brice A. Fujigasaki H, et al. Among authors: martin jj. Brain. 2001 Oct;124(Pt 10):1939-47. doi: 10.1093/brain/124.10.1939. Brain. 2001. PMID: 11571212

2

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.

Denora PS, Smets K, Zolfanelli F, Ceuterick-de Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P, Santorelli FM, Stevanin G, Martin JJ, El Hachimi KH. Denora PS, et al. Among authors: martin jj. Brain. 2016 Jun;139(Pt 6):1723-34. doi: 10.1093/brain/aww061. Epub 2016 Mar 25. Brain. 2016. PMID: 27016404 Free PMC article.

3

Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1.

Krols L, Martin JJ, David G, Van Regemorter N, Benomar A, Löfgren A, Stevanin G, Dürr A, Brice A, Van Broeckhoven C. Krols L, et al. Among authors: martin jj. Hum Genet. 1997 Feb;99(2):225-32. doi: 10.1007/s004390050344. Hum Genet. 1997. PMID: 9048926

4

Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation.

Dermaut B, Kumar-Singh S, De Jonghe C, Cruts M, Löfgren A, Lübke U, Cras P, Dom R, De Deyn PP, Martin JJ, Van Broeckhoven C. Dermaut B, et al. Among authors: martin jj. Brain. 2001 Dec;124(Pt 12):2383-92. doi: 10.1093/brain/124.12.2383. Brain. 2001. PMID: 11701593

5

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1.

Benomar A, Krols L, Stevanin G, Cancel G, LeGuern E, David G, Ouhabi H, Martin JJ, Dürr A, Zaim A, et al. Benomar A, et al. Among authors: martin jj. Nat Genet. 1995 May;10(1):84-8. doi: 10.1038/ng0595-84. Nat Genet. 1995. PMID: 7647798

6

A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder.

Bogaerts V, Engelborghs S, Kumar-Singh S, Goossens D, Pickut B, van der Zee J, Sleegers K, Peeters K, Martin JJ, Del-Favero J, Gasser T, Dickson DW, Wszolek ZK, De Deyn PP, Theuns J, Van Broeckhoven C. Bogaerts V, et al. Among authors: martin jj. Brain. 2007 Sep;130(Pt 9):2277-91. doi: 10.1093/brain/awm167. Epub 2007 Aug 6. Brain. 2007. PMID: 17681982

7

Classical Friedreich's ataxia and its genotype.

Martin J, Martin L, Löfgren A, D'Hooghe M, Storm K, Balemans W, Palau F, Van Broeckhoven C. Martin J, et al. Eur Neurol. 1999;42(2):109-15. doi: 10.1159/000069420. Eur Neurol. 1999. PMID: 10473983

8

Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion.

Dermaut B, Cruts M, Backhovens H, Lübke U, Van Everbroeck B, Sciot R, Dom R, Martin JJ, Van Broeckhoven C, Cras P. Dermaut B, et al. Among authors: martin jj. J Neurol. 2000 May;247(5):364-8. doi: 10.1007/s004150050603. J Neurol. 2000. PMID: 10896268

9

Identification and localization of ataxin-7 in brain and retina of a patient with cerebellar ataxia type II using anti-peptide antibody.

Mauger C, Del-Favero J, Ceuterick C, Lübke U, van Broeckhoven C, Martin J. Mauger C, et al. Brain Res Mol Brain Res. 1999 Dec 10;74(1-2):35-43. doi: 10.1016/s0169-328x(99)00256-9. Brain Res Mol Brain Res. 1999. PMID: 10640674

10

A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.

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, Van Broeckhoven C, Dermaut B. van der Zee J, et al. Among authors: martin jj. Brain. 2006 Apr;129(Pt 4):841-52. doi: 10.1093/brain/awl029. Epub 2006 Feb 22. Brain. 2006. PMID: 16495329

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