Koenig M - Search Results

1

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, Delaunoy JP, Fritsch M, Arning L, Synofzik M, Schöls L, Sequeiros J, Goizet C, Marelli C, Le Ber I, Koht J, Gazulla J, De Bleecker J, Mukhtar M, Drouot N, Ali-Pacha L, Benhassine T, Chbicheb M, M'Zahem A, Hamri A, Chabrol B, Pouget J, Murphy R, Watanabe M, Coutinho P, Tazir M, Durr A, Brice A, Tranchant C, Koenig M. Anheim M, et al. Among authors: koenig m, m zahem a. Brain. 2009 Oct;132(Pt 10):2688-98. doi: 10.1093/brain/awp211. Epub 2009 Aug 20. Brain. 2009. PMID: 19696032

2

Linkage disequilibrium analysis of Friedreich's ataxia in 140 Caucasian families: positioning of the disease locus and evaluation of allelic heterogeneity.

Sirugo G, Cocozza S, Brice A, Cavalcanti F, De Michele G, Dones I, Filla A, Koenig M, Lorenzetti D, Monticelli A, et al. Sirugo G, et al. Among authors: koenig m. Eur J Hum Genet. 1993;1(2):133-43. doi: 10.1159/000472400. Eur J Hum Genet. 1993. PMID: 7914465

3

Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families.

Ben Hamida M, Belal S, Sirugo G, Ben Hamida C, Panayides K, Ionannou P, Beckmann J, Mandel JL, Hentati F, Koenig M, et al. Ben Hamida M, et al. Among authors: koenig m. Neurology. 1993 Nov;43(11):2179-83. doi: 10.1212/wnl.43.11.2179. Neurology. 1993. PMID: 8232925

4

Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family.

Nadal N, Rolland MO, Tranchant C, Reutenauer L, Gyapay G, Warter JM, Mandel JL, Koenig M. Nadal N, et al. Among authors: koenig m. Hum Mol Genet. 1995 Oct;4(10):1963-6. doi: 10.1093/hmg/4.10.1963. Hum Mol Genet. 1995. PMID: 8595422

5

Clinical and genetic abnormalities in patients with Friedreich's ataxia.

Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel JL, Brice A, Koenig M. Dürr A, et al. Among authors: koenig m. N Engl J Med. 1996 Oct 17;335(16):1169-75. doi: 10.1056/NEJM199610173351601. N Engl J Med. 1996. PMID: 8815938 Free article.

6

Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia.

Isnard R, Kalotka H, Dürr A, Cossée M, Schmitt M, Pousset F, Thomas D, Brice A, Koenig M, Komajda M. Isnard R, et al. Among authors: koenig m. Circulation. 1997 May 6;95(9):2247-9. doi: 10.1161/01.cir.95.9.2247. Circulation. 1997. PMID: 9142000

7

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.

Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S, Trottier Y, Kish SJ, Faucheux B, Trouillas P, Authier FJ, Dürr A, Mandel JL, Vescovi A, Pandolfo M, Koenig M. Campuzano V, et al. Among authors: koenig m. Hum Mol Genet. 1997 Oct;6(11):1771-80. doi: 10.1093/hmg/6.11.1771. Hum Mol Genet. 1997. PMID: 9302253

8

Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein.

Watanabe M, Sugai Y, Concannon P, Koenig M, Schmitt M, Sato M, Shizuka M, Mizushima K, Ikeda Y, Tomidokoro Y, Okamoto K, Shoji M. Watanabe M, et al. Among authors: koenig m. Ann Neurol. 1998 Aug;44(2):265-9. doi: 10.1002/ana.410440220. Ann Neurol. 1998. PMID: 9708552

9

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.

Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, Allinson P, Kostrzewa M, Nivelon-Chevallier A, Gustavson KH, Kohlschütter A, Müller U, Mandel JL, Brice A, Koenig M, Cavalcanti F, Tammaro A, De Michele G, Filla A, Cocozza S, Labuda M, Montermini L, Poirier J, Pandolfo M. Cossée M, et al. Among authors: koenig m. Ann Neurol. 1999 Feb;45(2):200-6. doi: 10.1002/1531-8249(199902)45:2<200::aid-ana10>3.0.co;2-u. Ann Neurol. 1999. PMID: 9989622

10

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.

Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tüysüz B, Landrieu P, Hentati F, Koenig M. Bomont P, et al. Among authors: koenig m. Nat Genet. 2000 Nov;26(3):370-4. doi: 10.1038/81701. Nat Genet. 2000. PMID: 11062483

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