Goizet C - Search Results

1

LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2.

Peretti A, Perie M, Vincent D, Bouhour F, Dieterich K, Mallaret M, Duval F, Goizet C, Juntas-Morales R, Magy L, Solé G, Nollet S, Not A, Léonard-Louis S, Francou B, Leguern E, Lia AS, Magdelaine C, Latour P, Stojkovic T. Peretti A, et al. Among authors: goizet c. Eur J Hum Genet. 2019 Sep;27(9):1406-1418. doi: 10.1038/s41431-019-0403-8. Epub 2019 Apr 17. Eur J Hum Genet. 2019. PMID: 30996334 Free PMC article.

2

Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin32 mutations.

Vital A, Ferrer X, Lagueny A, Vandenberghe A, Latour P, Goizet C, Canron MH, Louiset P, Petry KG, Vital C. Vital A, et al. Among authors: goizet c. J Peripher Nerv Syst. 2001 Jun;6(2):79-84. doi: 10.1046/j.1529-8027.2001.01011.x. J Peripher Nerv Syst. 2001. PMID: 11446387

3

Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging.

Alao MJ, Bonneau D, Holder-Espinasse M, Goizet C, Manouvrier-Hanu S, Mezel A, Petit F, Subtil D, Magdelaine C, Lacombe D. Alao MJ, et al. Among authors: goizet c. Eur J Med Genet. 2010 Jan-Feb;53(1):19-22. doi: 10.1016/j.ejmg.2009.08.007. Epub 2009 Oct 4. Eur J Med Genet. 2010. PMID: 19808103 Free article.

4

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.

Masurel-Paulet A, Haan E, Thompson EM, Goizet C, Thauvin-Robinet C, Tai A, Kennedy D, Smith G, Khong TY, Solé G, Guerineau E, Coupry I, Huet F, Robertson S, Faivre L. Masurel-Paulet A, et al. Among authors: goizet c. Eur J Med Genet. 2011 Jan-Feb;54(1):25-8. doi: 10.1016/j.ejmg.2010.09.010. Epub 2010 Oct 1. Eur J Med Genet. 2011. PMID: 20888935

5

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.

Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Solé G, Coupry I, Pilliod J, Martin-Négrier ML, Fedirko E, Forlani S, Cazeneuve C, Hannequin D, Charles P, Feki I, Pinel JF, Ouvrard-Hernandez AM, Lyonnet S, Ollagnon-Roman E, Yaouanq J, Toutain A, Dussert C, Fontaine B, Leguern E, Lacombe D, Durr A, Rossignol R, Brice A, Stevanin G. Goizet C, et al. Hum Mutat. 2011 Oct;32(10):1118-27. doi: 10.1002/humu.21542. Epub 2011 Sep 9. Hum Mutat. 2011. PMID: 21618648

6

Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.

Fergelot P, Coupry I, Rooryck C, Deforges J, Maurat E, Solé G, Boute O, Dieux-Coeslier A, David A, Marchal C, Thambo JB, Lacombe D, Arveiler B, Goizet C. Fergelot P, et al. Among authors: goizet c. Eur J Med Genet. 2012 May;55(5):313-8. doi: 10.1016/j.ejmg.2012.01.018. Epub 2012 Feb 8. Eur J Med Genet. 2012. PMID: 22366253

7

A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.

Vital A, Latour P, Sole G, Ferrer X, Rouanet M, Tison F, Vital C, Goizet C. Vital A, et al. Among authors: goizet c. Neuromuscul Disord. 2012 Aug;22(8):735-41. doi: 10.1016/j.nmd.2012.04.001. Epub 2012 Apr 28. Neuromuscul Disord. 2012. PMID: 22546700

8

Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.

Vital A, Sole G, Casenave P, Magdelaine C, Ferrer X, Vital C, Goizet C. Vital A, et al. Among authors: goizet c. J Peripher Nerv Syst. 2013 Jun;18(2):181-4. doi: 10.1111/jns5.12028. J Peripher Nerv Syst. 2013. PMID: 23781966

9

Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.

Mathis S, Goizet C, Tazir M, Magdelaine C, Lia AS, Magy L, Vallat JM. Mathis S, et al. Among authors: goizet c. J Med Genet. 2015 Oct;52(10):681-90. doi: 10.1136/jmedgenet-2015-103272. Epub 2015 Aug 5. J Med Genet. 2015. PMID: 26246519 Review.

10

Fetal phenotypes in otopalatodigital spectrum disorders.

Naudion S, Moutton S, Coupry I, Sole G, Deforges J, Guerineau E, Hubert C, Deves S, Pilliod J, Rooryck C, Abel C, Le Breton F, Collardeau-Frachon S, Cordier MP, Delezoide AL, Goldenberg A, Loget P, Melki J, Odent S, Patrier S, Verloes A, Viot G, Blesson S, Bessières B, Lacombe D, Arveiler B, Goizet C, Fergelot P. Naudion S, et al. Among authors: goizet c. Clin Genet. 2016 Mar;89(3):371-7. doi: 10.1111/cge.12679. Epub 2015 Oct 29. Clin Genet. 2016. PMID: 26404489

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