G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndrome

Suzanne Lesage, Mathieu Anheim, Franck Letournel, +9

Annals of Neurology

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

Patrizia Amati‐Bonneau, Maria Lucia Valentino, Pascal Reynier, +30

Brain

Opa1 GeneGenome InstabilityMitochondrial BiogenesisOphthalmologyMitochondrial Function +13

Phenotype associated with APP duplication in five families

L. Cabrejo, Lucie Guyant‐Maréchal, A. Laquérrière, +11

Brain

GeneticsAlzheimer's DiseaseGenotype-phenotype AssociationApp LocusNeurology +17

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

Gaël Nicolas, Cyril Pottier, Camille Charbonnier, +29

Brain

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness

Patrizia Amati‐Bonneau, Agnès Guichet, Aurélien Olichon, +17

Annals of Neurology

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel <i>OPA1</i> mutations

Marc Ferré, Dominique Bonneau, Dan Miléa, +13

Human Mutation

Spine deformities in Charcot-Marie-Tooth 4C caused by <i>SH3TC2</i> gene mutations

Hamid Azzedine, N. Ravisé, Christophe Verny, +17

Neurology

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation

Christophe Verny, Naïg Guegen, Valérie Desquiret‐Dumas, +9

Mitochondrion

Mitochondrial MyopathyRare DiseasesKinesiologyMitochondrial FunctionGenetic Disorder +5

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

Julien Cassereau, Arnaud Chevrollier, Naïg Guéguen, +11

Neurogenetics

Mendelian DisorderMitochondrial FunctionGenetic DisorderGeneticsPathogenesis +6

A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency

Stéphanie Leruez, Alexandre Marill, Thomas Bresson, +15

Investigative Ophthalmology & Visual Science