Nazha Birouk
Publications by Year
Research Areas
Hereditary Neurological Disorders, Peripheral Neuropathies and Disorders, Genetic Neurodegenerative Diseases, Neurological diseases and metabolism, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → 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(2003)302 cited
- → Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases(1997)257 cited
- → Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion(1999)184 cited
- → X-linked Charcot-Marie-Tooth disease with connexin 32 mutations(1998)170 cited
- → Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia(2016)114 cited
- → Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations(2006)105 cited
- → Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease(2006)89 cited
- → A Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 1q21.2-q21.3(1999)88 cited
- → Phenotypical Features of a Moroccan Family With Autosomal Recessive Charcot-Marie-Tooth Disease Associated With the S194X Mutation in the GDAP1 Gene(2003)77 cited
- → Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: Characterization of 14 C×32 mutations in 35 families(1997)65 cited