Fabrice Klein

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene et al. · Human Mutation · 2012 · 135 citations · Full text

Peripheral Neuropathy, Mendelian Disorder, Autoimmune Disease +15

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

Martial Mallaret, Matthis Synofzik, Jae‐Ho Lee et al. · Brain · 2013 · 127 citations · Full text

Neurobiology Of Disease, Mendelian Disorder, Neurological Disorder +15

Mammalian ataxin-2 modulates translation control at the pre-initiation complex via PI3K/mTOR and is induced by starvation

Isabel Lastres‐Becker, David Nonis, Florian Eich et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2016 · 102 citations

Signal Transduction, Signaling Pathway, Cell Signaling +9

Pathogenic and Non-pathogenic Polyglutamine Tracts Have Similar Structural Properties: Towards a Length-dependent Toxicity Gradient

Fabrice Klein, Annalisa Pastore, Laura Masino et al. · Journal of Molecular Biology · 2007 · 89 citations

Length-dependent Toxicity Gradient, Similar Structural Properties, Pathogenesis +6

Linear and extended: a common polyglutamine conformation recognized by the three antibodies MW1, 1C2 and 3B5H10

Fabrice Klein, Gabrielle Zeder‐Lutz, A. Cousido-Siah et al. · Human Molecular Genetics · 2013 · 41 citations · Full text