Mériem Tazir

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

Annachiara De Sandre‐Giovannoli, Malika Chaouch, Serguei Kozlov et al. · The American Journal of Human Genetics · 2002 · 542 citations · Full text

Neurodegenerative Diseases, Homozygous Defects, Molecular Neuroscience +8

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Suzanne Lesage, Valérie Drouet, Elisa Majounie et al. · The American Journal of Human Genetics · 2016 · 427 citations · Full text

Cell Autophagy, Mitophagy, Mitochondrial Function +7

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

Pascale Bomont, L Cavalier, F Blondeau et al. · Nature Genetics · 2000 · 410 citations

Neuroregeneration, Molecular Neuroscience, Giant Axonal Neuropathy +11

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

Giovanni Stévanin, Filippo M. Santorelli, Hamid Azzedine et al. · Nature Genetics · 2007 · 331 citations

Biology, Neuroanatomy, Genetics +8

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

Clotilde Lagier‐Tourenne, Mériem Tazir, Luís C. López et al. · The American Journal of Human Genetics · 2008 · 316 citations · Full text

Is Mutated, Mendelian Disorder, Genetic Disorder +7