Koenig M - Search Results

1

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, Slavotinek A, Reitnauer PJ, Goksungur MT, Shy M, Crawford TO, Koenig M, Willer J, Flores BN, Pediaditrakis I, Us O, Wiszniewski W, Parman Y, Antonellis A, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics; Katsanis N, Battaloglu E, Boerwinkle E, Gibbs RA, Lupski JR. Gonzaga-Jauregui C, et al. Among authors: koenig m. Cell Rep. 2015 Aug 18;12(7):1169-83. doi: 10.1016/j.celrep.2015.07.023. Epub 2015 Aug 6. Cell Rep. 2015. PMID: 26257172 Free PMC article.

2

Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies.

Chelly J, Gilgenkrantz H, Lambert M, Hamard G, Chafey P, Récan D, Katz P, de la Chapelle A, Koenig M, Ginjaar IB, et al. Chelly J, et al. Among authors: koenig m. Cell. 1990 Dec 21;63(6):1239-48. doi: 10.1016/0092-8674(90)90419-f. Cell. 1990. PMID: 2261642

3

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.

Koenig M, Monaco AP, Kunkel LM. Koenig M, et al. Cell. 1988 Apr 22;53(2):219-28. doi: 10.1016/0092-8674(88)90383-2. Cell. 1988. PMID: 3282674

4

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.

5

Giant axonal neuropathy locus refinement to a < 590 kb critical interval.

Cavalier L, BenHamida C, Amouri R, Belal S, Bomont P, Lagarde N, Gressin L, Callen D, Demir E, Topaloglu H, Landrieu P, Ioos C, Hamida MB, Koenig M, Hentati F. Cavalier L, et al. Among authors: koenig m. Eur J Hum Genet. 2000 Jul;8(7):527-34. doi: 10.1038/sj.ejhg.5200476. Eur J Hum Genet. 2000. PMID: 10909853

6

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

7

Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23.

Bomont P, Watanabe M, Gershoni-Barush R, Shizuka M, Tanaka M, Sugano J, Guiraud-Chaumeil C, Koenig M. Bomont P, et al. Among authors: koenig m. Eur J Hum Genet. 2000 Dec;8(12):986-90. doi: 10.1038/sj.ejhg.5200586. Eur J Hum Genet. 2000. PMID: 11175288

8

Phenotypic variability of aprataxin gene mutations.

Tranchant C, Fleury M, Moreira MC, Koenig M, Warter JM. Tranchant C, et al. Among authors: koenig m. Neurology. 2003 Mar 11;60(5):868-70. doi: 10.1212/01.wnl.0000048562.88536.a4. Neurology. 2003. PMID: 12629250

9

Identification of seven novel mutations in the GAN gene.

Bomont P, Ioos C, Yalcinkaya C, Korinthenberg R, Vallat JM, Assami S, Munnich A, Chabrol B, Kurlemann G, Tazir M, Koenig M. Bomont P, et al. Among authors: koenig m. Hum Mutat. 2003 Apr;21(4):446. doi: 10.1002/humu.9122. Hum Mutat. 2003. PMID: 12655563

10

Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays.

H'mida-Ben Brahim D, M'zahem A, Assoum M, Bouhlal Y, Fattori F, Anheim M, Ali-Pacha L, Ferrat F, Chaouch M, Lagier-Tourenne C, Drouot N, Thibaut C, Benhassine T, Sifi Y, Stoppa-Lyonnet D, N'Guyen K, Poujet J, Hamri A, Hentati F, Amouri R, Santorelli FM, Tazir M, Koenig M. H'mida-Ben Brahim D, et al. Among authors: koenig m, m zahem a. J Neurol. 2011 Jan;258(1):56-67. doi: 10.1007/s00415-010-5682-5. Epub 2010 Aug 27. J Neurol. 2011. PMID: 20798953

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