Nazha Birouk

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 · 301 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases

Nazha Birouk · Brain · 1997 · 256 citations

Functional Disability, Median Nerve, Neurological Disorder +16

Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion

Philippe Mouton, Sandrine Tardieu, Riadh Gouider et al. · Neurology · 1999 · 184 citations

X-linked Charcot-Marie-Tooth disease with connexin 32 mutations

Nazha Birouk, Éric Leguern, Thierry Maisonobe et al. · Neurology · 1998 · 170 citations

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Ziv Gan‐Or, Naïma Bouslam, Nazha Birouk et al. · The American Journal of Human Genetics · 2016 · 113 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +4