Koenig M - Search Results

1

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

2

Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus.

Belal S, Panayides K, Sirugo G, Ben Hamida C, Ioannou P, Hentati F, Beckmann J, Koenig M, Mandel JL, Ben Hamida M, et al. Belal S, et al. Among authors: koenig m. Am J Hum Genet. 1992 Dec;51(6):1372-6. Am J Hum Genet. 1992. PMID: 1463017 Free PMC article.

3

Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up.

Amiel J, Maziere JC, Beucler I, Koenig M, Reutenauer L, Loux N, Bonnefont D, Féo C, Landrieu P. Amiel J, et al. Among authors: koenig m. J Inherit Metab Dis. 1995;18(3):333-40. doi: 10.1007/BF00710425. J Inherit Metab Dis. 1995. PMID: 7474901

4

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.

Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M. Ouahchi K, et al. Among authors: koenig m. Nat Genet. 1995 Feb;9(2):141-5. doi: 10.1038/ng0295-141. Nat Genet. 1995. PMID: 7719340

5

The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb.

Duclos F, Rodius F, Wrogemann K, Mandel JL, Koenig M. Duclos F, et al. Among authors: koenig m. Hum Mol Genet. 1994 Jun;3(6):909-14. doi: 10.1093/hmg/3.6.909. Hum Mol Genet. 1994. PMID: 7951235

6

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

7

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.

Koutnikova H, Campuzano V, Foury F, Dollé P, Cazzalini O, Koenig M. Koutnikova H, et al. Among authors: koenig m. Nat Genet. 1997 Aug;16(4):345-51. doi: 10.1038/ng0897-345. Nat Genet. 1997. PMID: 9241270

8

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.

Cavalier L, Ouahchi K, Kayden HJ, Di Donato S, Reutenauer L, Mandel JL, Koenig M. Cavalier L, et al. Among authors: koenig m. Am J Hum Genet. 1998 Feb;62(2):301-10. doi: 10.1086/301699. Am J Hum Genet. 1998. PMID: 9463307 Free PMC article.

9

Clinical nosologic and genetic aspects of Joubert and related syndromes.

Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Chance PF, et al. Among authors: koenig m. J Child Neurol. 1999 Oct;14(10):660-6; discussion 669-72. doi: 10.1177/088307389901401007. J Child Neurol. 1999. PMID: 10511339 Review.

10

Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1.

Ben Hamida C, Cavalier L, Belal S, Sanhaji H, Nadal N, Barhoumi C, M'Rissa N, Marzouki N, Mandel JL, Ben Hamida M, Koenig M, Hentati F. Ben Hamida C, et al. Among authors: koenig m, m rissa n. Neurogenetics. 1997 Sep;1(2):129-33. doi: 10.1007/s100480050019. Neurogenetics. 1997. PMID: 10732815

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