S. Ait-El-Mkadem

发表

Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322–324.

J. Pouget, A. Chaussenot, S. Sacconi, 2015, Journal of the Neurological Sciences.

Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency

A. Rötig, V. Desquiret-Dumas, V. Procaccio, 2012, European Journal of Human Genetics.

Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

E. Génin, A. Brice, P. Yu-Wai-Man, 2014, Brain : a journal of neurology.

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions

P. Yu-Wai-Man, A. Chaussenot, S. Bannwarth, 2017, Human molecular genetics.

Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

A. Brice, P. Yu-Wai-Man, J. Pouget, 2015, Brain : a journal of neurology.

CHCHD10-Related Disorders

A. Chaussenot, S. Bannwarth, C. Rouzier, 2015 .

MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles

A. Chaussenot, S. Sacconi, S. Bannwarth, 2018, Neurology: Genetics.

C. Richelme, A. Chaussenot, S. Bannwarth, 2019, Journal of Human Genetics.

A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers

A. Chaussenot, S. Bannwarth, A. M. Paula, 2016, Neuromuscular Disorders.

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

A. Chaussenot, S. Bannwarth, J. Benoist, 2016, Biological Research.

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.

E. Génin, A. Brice, P. Yu-Wai-Man, 2016, Brain : a journal of neurology.

Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1‐related disorders

H. Dollfus, A. Chaussenot, M. Nicolino, 2015, Clinical genetics.

Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases

A. Chaussenot, S. Bannwarth, C. Rouzier, 2018, BMC Medical Genetics.

Multi-Omics Approaches to Improve Mitochondrial Disease Diagnosis: Challenges, Advances, and Perspectives

Justine Labory, Morgane Fierville, Samira Ait-El-Mkadem, 2020, Frontiers in Molecular Biosciences.

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.

E. Génin, A. Brice, P. Yu-Wai-Man, 2014, Brain : a journal of neurology.

Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases

J. Pouget, M. Soriani, A. Chaussenot, 2020, Human mutation.

C. Richelme, A. Chaussenot, S. Bannwarth, 2019, Journal of Human Genetics.

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Robert W. Taylor, J. Gagneur, E. Génin, 2016, American journal of human genetics.

CHCHD10 mutations are not a common cause of SMN1‐negative type III/IV spinal motor atrophy

E. Génin, J. Pouget, M. Soriani, 2015, Annals of neurology.

Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

E. Génin, A. Brice, P. Yu-Wai-Man, 2015, Brain : a journal of neurology.

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

E. Génin, A. Brice, P. Yu-Wai-Man, 2015, Brain : a journal of neurology.

Mutations Are Not a Common Cause of SMN 1-Negative Type III / IV Spinal Motor Atrophy

E. Génin, J. Pouget, A. Chaussenot, 2015 .

Reply : CHCHD 10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

E. Génin, A. Brice, P. Yu-Wai-Man, 2015 .

Reply : Is CHCHD 10 Pro 34 Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis ?

E. Génin, A. Brice, P. Yu-Wai-Man, 2015 .

Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

E. Génin, A. Brice, P. Yu-Wai-Man, 2014, Brain : a journal of neurology.

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients

A. Brice, J. Pouget, A. Camuzat, 2014, Neurobiology of Aging.

Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.

E. Génin, A. Brice, P. Yu-Wai-Man, 2014, Brain : a journal of neurology.

Reply : Are CHCHD 10 mutations indeed associated with familial amyotrophic lateral sclerosis ?

E. Génin, A. Brice, P. Yu-Wai-Man, 2014 .

Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort

C. Richelme, J. Pouget, A. Chaussenot, 2013, European Journal of Human Genetics.

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

A. Chaussenot, S. Bannwarth, J. Benoist, 2016, Biological Research.

Association of insulin receptor genetic variants with polycystic ovary syndrome in a population of women from Central Europe.

F. Grigorescu, R. Attaoua, M. Coculescu, 2010, Fertility and sterility.