Martin JJ - Search Results

1

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

2

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

3

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

4

Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.

Del-Favero J, Krols L, Michalik A, Theuns J, Löfgren A, Goossens D, Wehnert A, Van den Bossche D, Van Zand K, Backhovens H, van Regenmorter N, Martin JJ, Van Broeckhoven C. Del-Favero J, et al. Among authors: martin jj. Hum Mol Genet. 1998 Feb;7(2):177-86. doi: 10.1093/hmg/7.2.177. Hum Mol Genet. 1998. PMID: 9425224

5

On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family.

Martin JJ, Van Regemorter N, Krols L, Brucher JM, de Barsy T, Szliwowski H, Evrard P, Ceuterick C, Tassignon MJ, Smet-Dieleman H, et al. Martin JJ, et al. Acta Neuropathol. 1994;88(4):277-86. doi: 10.1007/BF00310370. Acta Neuropathol. 1994. PMID: 7839819

6

Pure familial spastic paraplegia: clinical and genetic analysis of nine Belgian pedigrees.

De Jonghe P, Krols L, Michalik A, Hazan J, Smeyers G, Löfgren A, Weissenbach J, Martin JJ, Van Broeckhoven C. De Jonghe P, et al. Among authors: martin jj. Eur J Hum Genet. 1996;4(5):260-6. doi: 10.1159/000472212. Eur J Hum Genet. 1996. PMID: 8946171

7

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

Martin E, Schüle R, Smets K, Rastetter A, Boukhris A, Loureiro JL, Gonzalez MA, Mundwiller E, Deconinck T, Wessner M, Jornea L, Oteyza AC, Durr A, Martin JJ, Schöls L, Mhiri C, Lamari F, Züchner S, De Jonghe P, Kabashi E, Brice A, Stevanin G. Martin E, et al. Among authors: martin jj. Am J Hum Genet. 2013 Feb 7;92(2):238-44. doi: 10.1016/j.ajhg.2012.11.021. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332916 Free PMC article.

8

Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).

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. Timmerman V, et al. Among authors: martin jj. Hum Genet. 1996 Jan;97(1):26-34. doi: 10.1007/BF00218828. Hum Genet. 1996. PMID: 8557256

9

Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3.

Van Broeckhoven C, Backhovens H, Cruts M, De Winter G, Bruyland M, Cras P, Martin JJ. Van Broeckhoven C, et al. Among authors: martin jj. Nat Genet. 1992 Dec;2(4):335-9. doi: 10.1038/ng1292-335. Nat Genet. 1992. PMID: 1303290

10

POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.

Van Maldergem L, Besse A, De Paepe B, Blakely EL, Appadurai V, Humble MM, Piard J, Craig K, He L, Hella P, Debray FG, Martin JJ, Gaussen M, Laloux P, Stevanin G, Van Coster R, Taylor RW, Copeland WC, Mormont E, Bonnen PE. Van Maldergem L, et al. Among authors: martin jj. Ann Clin Transl Neurol. 2016 Nov 16;4(1):4-14. doi: 10.1002/acn3.361. eCollection 2017 Jan. Ann Clin Transl Neurol. 2016. PMID: 28078310 Free PMC article.

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