A. Furby
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Muscle Physiology and Disorders, Hereditary Neurological Disorders, Glycogen Storage Diseases and Myoclonus, Genetic Neurodegenerative Diseases
Most-Cited Works
- → OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes(2007)513 cited
- → Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy(2012)136 cited
- → Late-onset cervicoscapular muscle atrophy and weakness after radiotherapy for Hodgkin disease: a case series(2009)65 cited
- → Prognostic value of EEG in very premature newborns(2011)59 cited
- → Motor evoked potentials to magnetic stimulation: technical considerations and normative data from 50 subjects(1992)51 cited
- → New CACNA1A Gene Mutation in a Case of Familial Hemiplegic Migraine with Status epilepticus(2004)49 cited
- → Rural environment and risk factors of amyotrophic lateral sclerosis: a case–control study(2009)47 cited
- → In vivo and in vitro functional characterization of Andersen's syndrome mutations(2005)39 cited
- → Indications de l'électroencéphalogramme en période néonatale(2004)36 cited
- → Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia(2014)34 cited