Le Guern E - Search Results

1

SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.

Barbier M, Camuzat A, Hachimi KE, Guegan J, Rinaldi D, Lattante S, Houot M, Sánchez-Valle R, Sabatelli M, Antonell A, Molina-Porcel L, Clot F, Couratier P, van der Ende E, van der Zee J, Manzoni C, Camu W, Cazeneuve C, Sellal F, Didic M, Golfier V, Pasquier F, Duyckaerts C, Rossi G, Bruni AC, Alvarez V, Gómez-Tortosa E, de Mendonça A, Graff C, Masellis M, Nacmias B, Oumoussa BM, Jornea L, Forlani S; French clinical and genetic Research network on FTLD/FTLD-ALS and PREVDEMALS, The International Frontotemporal Dementia Genomics Consortium, The European Early Onset Dementia (EU -EOD) Consortium, Brainbank Neuro-CEB Neuropathology Network, Neurological Tissue Bank of the Biobank Hospital Clinic-IDIBAPS; Van Deerlin V, Rohrer JD, Gelpi E, Rademakers R, Van Swieten J, Le Guern E, Van Broeckhoven C, Ferrari R, Génin E, Brice A, Le Ber I. Barbier M, et al. Among authors: le guern e. Brain. 2021 Oct 22;144(9):2798-2811. doi: 10.1093/brain/awab171. Brain. 2021. PMID: 34687211

2

Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion.

Gouider R, LeGuern E, Gugenheim M, Tardieu S, Maisonobe T, Léger JM, Vallat JM, Agid Y, Bouche P, Brice A. Gouider R, et al. Neurology. 1995 Nov;45(11):2018-23. doi: 10.1212/wnl.45.11.2018. Neurology. 1995. PMID: 7501152

3

Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities.

Gouider R, LeGuern E, Emile J, Tardieu S, Cabon F, Samid M, Weissenbach J, Agid Y, Bouche P, Brice A. Gouider R, et al. Neurology. 1994 Dec;44(12):2250-2. doi: 10.1212/wnl.44.12.2250. Neurology. 1994. PMID: 7991107

4

Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I.

Benomar A, Le Guern E, Dürr A, Ouhabi H, Stevanin G, Yahyaoui M, Chkili T, Agid Y, Brice A. Benomar A, et al. Among authors: le guern e. Ann Neurol. 1994 Apr;35(4):439-44. doi: 10.1002/ana.410350411. Ann Neurol. 1994. PMID: 8154871

5

Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease.

LeGuern E, Gouider R, Mabin D, Tardieu S, Birouk N, Parent P, Bouche P, Brice A. LeGuern E, et al. Ann Neurol. 1997 Jan;41(1):104-8. doi: 10.1002/ana.410410117. Ann Neurol. 1997. PMID: 9005872

6

A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease.

Kessali M, Zemmouri R, Guilbot A, Maisonobe T, Brice A, LeGuern E, Grid D. Kessali M, et al. Neurology. 1997 Apr;48(4):867-73. doi: 10.1212/wnl.48.4.867. Neurology. 1997. PMID: 9109869

7

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

Birouk N, Gouider R, Le Guern E, Gugenheim M, Tardieu S, Maisonobe T, Le Forestier N, Agid Y, Brice A, Bouche P. Birouk N, et al. Among authors: le forestier n, le guern e. Brain. 1997 May;120 ( Pt 5):813-23. doi: 10.1093/brain/120.5.813. Brain. 1997. PMID: 9183252

8

X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.

Birouk N, LeGuern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, Gugenheim M, Routon MC, Léger JM, Agid Y, Brice A, Bouche P. Birouk N, et al. Neurology. 1998 Apr;50(4):1074-82. doi: 10.1212/wnl.50.4.1074. Neurology. 1998. PMID: 9566397

9

Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion.

Mouton P, Tardieu S, Gouider R, Birouk N, Maisonobe T, Dubourg O, Brice A, LeGuern E, Bouche P. Mouton P, et al. Neurology. 1999 Apr 22;52(7):1440-6. doi: 10.1212/wnl.52.7.1440. Neurology. 1999. PMID: 10227632

10

Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies.

Dubourg O, Mouton P, Brice A, LeGuern E, Bouche P. Dubourg O, et al. Neuromuscul Disord. 2000 Mar;10(3):206-8. doi: 10.1016/s0960-8966(99)00103-0. Neuromuscul Disord. 2000. PMID: 10734269 No abstract available.

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