T. Chkili

Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma

Hamid Azzedine, Alessandra Bolino, T. Taïeb et al. · The American Journal of Human Genetics · 2003 · 302 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

Ali Benomar, Luc Krols, Giovanni Stévanin et al. · Nature Genetics · 1995 · 160 citations

Life Sciences, Genetics, Molecular Genetics +12

A Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 1q21.2-q21.3

Ahmed Bouhouche, Ali Benomar, Nazha Birouk et al. · The American Journal of Human Genetics · 1999 · 89 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

A PCR Amplification Method Reveals Instability of the Dodecamer Repeat in Progressive Myoclonus Epilepsy (EPM1) and No Correlation between the Size of the Repeat and Age at Onset

Maria D. Lalioti, Hamish S. Scott, Pierre Genton et al. · The American Journal of Human Genetics · 1998 · 70 citations · Full text

Medicine, Genetics, Neurology +10

Autosomal‐dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I

Ali Benomar, E. Le Guern, Alexandra Dürr et al. · Annals of Neurology · 1994 · 66 citations

Life Sciences, Genetics, Neurology +16