Durr A - Search Results

1

Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

Barbier M, Davoine CS, Petit E, Porché M, Guillot-Noel L, Sayah S, Fauret AL, Neau JP, Guyant-Maréchal L, Deffond D, Tranchant C, Goizet C, Coarelli G, Castrioto A, Klebe S, Ewenczyk C, Heinzmann A, Charles P, Tchikviladzé M, Van Broeckhoven C, Brice A, Durr A. Barbier M, et al. Among authors: durr a. Genet Med. 2023 Feb;25(2):100327. doi: 10.1016/j.gim.2022.10.009. Epub 2022 Nov 23. Genet Med. 2023. PMID: 36422518 Free article.

2

Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2).

Dürr A, Brice A, Lepage-Lezin A, Cancel G, Smadja D, Vernant JC, Agid Y. Dürr A, et al. Clin Neurosci. 1995;3(1):12-6. Clin Neurosci. 1995. PMID: 7614088 Review.

3

Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.

Pêcheux C, Mouret JF, Dürr A, Agid Y, Feingold J, Brice A, Dodé C, Kaplan JC. Pêcheux C, et al. Among authors: durr a. J Med Genet. 1995 May;32(5):399-400. doi: 10.1136/jmg.32.5.399. J Med Genet. 1995. PMID: 7616551 Free PMC article.

4

Diagnosis of "sporadic" Huntington's disease.

Dürr A, Dodé C, Hahn V, Pêcheux C, Pillon B, Feingold J, Kaplan JC, Agid Y, Brice A. Dürr A, et al. J Neurol Sci. 1995 Mar;129(1):51-5. doi: 10.1016/0022-510x(94)00250-r. J Neurol Sci. 1995. PMID: 7751845

5

[Cerebellar ataxia with autosomal dominant transmission].

Dürr A, Brice A. Dürr A, et al. Rev Neurol (Paris). 1994 Oct;150(10):661-3. Rev Neurol (Paris). 1994. PMID: 7792472 French. No abstract available.

6

The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2.

Stevanin G, Cancel G, Dürr A, Chneiweiss H, Dubourg O, Weissenbach J, Cann HM, Agid Y, Brice A. Stevanin G, et al. Among authors: durr a. Am J Hum Genet. 1995 Jan;56(1):193-201. Am J Hum Genet. 1995. PMID: 7825578 Free PMC article.

7

Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations.

Dubourg O, Dürr A, Cancel G, Stevanin G, Chneiweiss H, Penet C, Agid Y, Brice A. Dubourg O, et al. Among authors: durr a. Ann Neurol. 1995 Feb;37(2):176-80. doi: 10.1002/ana.410370207. Ann Neurol. 1995. PMID: 7847859

8

Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1: clinical and genetic analysis of 10 French families.

Khati C, Stevanin G, Durr A, Chneiweiss H, Belal S, Seck A, Cann H, Brice A, Agid Y. Khati C, et al. Among authors: durr a. Neurology. 1993 Jun;43(6):1131-7. doi: 10.1212/wnl.43.6.1131. Neurology. 1993. PMID: 8170557

9

Familial essential tremor and idiopathic torsion dystonia are different genetic entities.

Dürr A, Stevanin G, Jedynak CP, Penet C, Agid Y, Brice A. Dürr A, et al. Neurology. 1993 Nov;43(11):2212-4. doi: 10.1212/wnl.43.11.2212. Neurology. 1993. PMID: 8232931

10

Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus.

Stevanin G, Chneiweiss H, Le Guern E, Ravise N, Dürr A, Penet C, Agid Y, Brice A. Stevanin G, et al. Among authors: durr a. Hum Mol Genet. 1993 Sep;2(9):1483-5. doi: 10.1093/hmg/2.9.1483. Hum Mol Genet. 1993. PMID: 8242077 No abstract available.

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