Chelly J - Search Results

1

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

Vasli N, Böhm J, Le Gras S, Muller J, Pizot C, Jost B, Echaniz-Laguna A, Laugel V, Tranchant C, Bernard R, Plewniak F, Vicaire S, Levy N, Chelly J, Mandel JL, Biancalana V, Laporte J. Vasli N, et al. Among authors: chelly j. Acta Neuropathol. 2012 Aug;124(2):273-83. doi: 10.1007/s00401-012-0982-8. Epub 2012 Apr 18. Acta Neuropathol. 2012. PMID: 22526018 Free PMC article.

2

Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

Mandel JL, Chelly J. Mandel JL, et al. Among authors: chelly j. Eur J Hum Genet. 2004 Sep;12(9):689-93. doi: 10.1038/sj.ejhg.5201247. Eur J Hum Genet. 2004. PMID: 15319782

3

Monogenic causes of X-linked mental retardation.

Chelly J, Mandel JL. Chelly J, et al. Nat Rev Genet. 2001 Sep;2(9):669-80. doi: 10.1038/35088558. Nat Rev Genet. 2001. PMID: 11533716 Review.

4

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.

Montaut S, Tranchant C, Drouot N, Rudolf G, Guissart C, Tarabeux J, Stemmelen T, Velt A, Fourrage C, Nitschké P, Gerard B, Mandel JL, Koenig M, Chelly J, Anheim M; French Parkinson’s and Movement Disorders Consortium. Montaut S, et al. Among authors: chelly j. JAMA Neurol. 2018 Oct 1;75(10):1234-1245. doi: 10.1001/jamaneurol.2018.1478. JAMA Neurol. 2018. PMID: 29913018 Free PMC article.

5

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

Cossée M, Lagier-Tourenne C, Seguela C, Mohr M, Leturcq F, Gundesli H, Chelly J, Tranchant C, Koenig M, Mandel JL. Cossée M, et al. Among authors: chelly j. Neuromuscul Disord. 2009 Apr;19(4):255-60. doi: 10.1016/j.nmd.2009.02.003. Epub 2009 Mar 19. Neuromuscul Disord. 2009. PMID: 19303295

6

Increased diagnostic yield in complex dystonia through exome sequencing.

Wirth T, Tranchant C, Drouot N, Keren B, Mignot C, Cif L, Lefaucheur R, Lion-François L, Méneret A, Gras D, Roze E, Laroche C, Burbaud P, Bannier S, Lagha-Boukbiza O, Spitz MA, Laugel V, Bereau M, Ollivier E, Nitschke P, Doummar D, Rudolf G, Anheim M, Chelly J. Wirth T, et al. Among authors: chelly j. Parkinsonism Relat Disord. 2020 May;74:50-56. doi: 10.1016/j.parkreldis.2020.04.003. Epub 2020 Apr 20. Parkinsonism Relat Disord. 2020. PMID: 32334381

7

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome.

Schalk A, Greff G, Drouot N, Obringer C, Dollfus H, Laugel V, Chelly J, Calmels N. Schalk A, et al. Among authors: chelly j. Eur J Hum Genet. 2018 Apr;26(4):527-536. doi: 10.1038/s41431-017-0009-y. Epub 2018 Feb 8. Eur J Hum Genet. 2018. PMID: 29422660 Free PMC article.

8

Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.

Rey T, Tarabeux J, Gerard B, Delbarre M, Le Béchec A, Stoetzel C, Prasad M, Laugel-Haushalter V, Kawczynski M, Muller J, Chelly J, Dollfus H, Manière MC, Bloch-Zupan A. Rey T, et al. Among authors: chelly j. Methods Mol Biol. 2019;1922:407-452. doi: 10.1007/978-1-4939-9012-2_36. Methods Mol Biol. 2019. PMID: 30838594

9

A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3.

Renaud M, Marcel C, Rudolf G, Schaeffer M, Lagha-Boukbiza O, Chanson JB, Chelly J, Anheim M, Tranchant C. Renaud M, et al. Among authors: chelly j. BMC Neurol. 2016 Nov 23;16(1):238. doi: 10.1186/s12883-016-0748-3. BMC Neurol. 2016. PMID: 27881096 Free PMC article.

10

Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.

Montaut S, Diedhiou N, Fahrer P, Marelli C, Lhermitte B, Robelin L, Vincent MC, Corti L, Taieb G, Gebus O, Rudolf G, Tarabeux J, Dondaine N, Canuet M, Almeras M, Benkirane M, Larrieu L, Chanson JB, Nadaj-Pakleza A, Echaniz-Laguna A, Cauquil C, Lannes B, Chelly J, Anheim M, Puccio H, Tranchant C. Montaut S, et al. Among authors: chelly j. J Neurol. 2021 Sep;268(9):3337-3343. doi: 10.1007/s00415-021-10499-5. Epub 2021 Mar 5. J Neurol. 2021. PMID: 33666721

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