M. Chaouch

发表

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1

Hans H. Jung, C. Tilikete, M. Koenig, 2018, JAMA neurology.

The phenotypic manifestations of autosomal recessive axonalCharcot–Marie–Tooth due to a mutation in Lamin A/C gene

P. Sindou, J. Vallat, D. Grid, 2003, Neuromuscular Disorders.

Founder Effect and Estimation of the Age of the c.892C>T (p.Arg298Cys) Mutation in LMNA Associated to Charcot‐Marie‐Tooth Subtype CMT2B1 in Families from North Western Africa

E. Génin, N. Lévy, D. Grid, 2008, Annals of human genetics.

Atypical pantothenate kinase-associated neurodegeneration: Clinical description of two brothers and a review of the literature.

M. Chaouch, S. Mahoui, A. Benhaddadi, 2017, Revue neurologique.

Galanin pathogenic mutations in temporal lobe epilepsy.

S. Antonarakis, P. Ryvlin, A. Crespel, 2015, Human molecular genetics.

Consanguinity and epilepsy in Oran, Algeria: A case–control study

R. Talhi, M. Chaouch, A. Chentouf, 2015, Epilepsy Research.

Refining the phenotype associated with CASC5 mutation

A. Munnich, C. Bole-Feysot, P. Nitschké, 2015, neurogenetics.

Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.

K. Campbell, N. Romero, F. Leturcq, 1997, Neurology.

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

J. Beckmann, K. Campbell, N. Romero, 1995, Nature Genetics.

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia

N. Drouot, M. Koenig, J. Muller, 2015, BMC Medical Genetics.

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

N. Drouot, M. Koenig, F. Santorelli, 2010, Journal of Neurology.

Mutation in TTI2 Reveals a Role for Triple T Complex in Human Brain Development

A. Munnich, M. Stern, P. Nitschké, 2013, Human mutation.

Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.

P. Sindou, J. Vallat, D. Grid, 2004, Brain : a journal of neurology.

Cardiopericardial Hydatid Cysts

M. Chaouch, M. Mestiri, M. Thameur, 2001, World journal of surgery.

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

E. Chouery, A. Mégarbané, N. Lévy, 2005, Journal of Medical Genetics.

TO JMG Homozygosity mapping of autosomal recessive demyelinating

E. Chouery, A. Mégarbané, T. Maisonobe, 2005 .

Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations

A. Mégarbané, N. Lévy, J. Vallat, 2003, Journal of medical genetics.

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Colin A. Johnson, S. Gabriel, E. Bertini, 2013, European Journal of Human Genetics.

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

C. Stewart, N. Lévy, J. Vallat, 2002, American journal of human genetics.

Intragenic deletion patterns of dystrophin gene in Duchenne and Becker muscular dystrophy patients from Algeria

S. Nouioua, M. Tazir, S. Makri, 2013, Genes & Genomics.

Mutations in FGD 4 encoding the Rho GDP / GTP Exchange Factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4 H

E. Chouery, A. Mégarbané, N. Lévy, 2008 .

G.O.3 Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

E. Chouery, A. Mégarbané, D. Grid, 2007, Neuromuscular Disorders.

Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.

A. Munnich, N. Boddaert, L. Colleaux, 2009, European journal of medical genetics.

Absence of γ‐sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12

K. Campbell, Y. Sunada, F. Duclos, 1996, FEBS letters.

Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12.

J. Beckmann, J. Weissenbach, A. Vignal, 1993, Human molecular genetics.

Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

K. Campbell, J. Kaplan, K. Matsumura, 1992, Nature.

Laminin abnormality in severe childhood autosomal recessive muscular dystrophy.

S. Roberds, T. Mitsui, K. Azibi, 1995, Laboratory investigation; a journal of technical methods and pathology.

Familial epilepsy in Algeria: Clinical features and inheritance profiles

S. Antonarakis, M. Guipponi, H. Hamamy, 2015, Seizure.

Greater improvement in LRRK2 G2019S patients undergoing Subthalamic Nucleus Deep Brain Stimulation compared to non-mutation carriers

A. Brice, S. Lesage, M. Zouambia, 2016, BMC Neuroscience.

Early Predictors of Refractory Epilepsy in Oran, Algeria: A Case-Control Study

Ommega Internationals, M. Chaouch, A. Chentouf, 2016 .

A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities

A. Munnich, D. Lessel, C. Kubisch, 2023, American journal of medical genetics. Part A.

Intragenic deletion patterns of dystrophin gene in Duchenne and Becker muscular dystrophy patients from Algeria

S. Nouioua, M. Tazir, S. Makri, 2014, Genes & Genomics.

Galanin pathogenic mutations in temporal lobe epilepsy.

S. Antonarakis, P. Ryvlin, A. Crespel, 2015, Human molecular genetics.