High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

Andreas Bender, Kim J. Krishnan, Christopher M. Morris, +9

Nature Genetics

Mitochondrial FunctionMitochondrial DynamicGeneticsParkinson DiseaseSubstantia Nigra Neurons +6

Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

Niccolò E. Mencacci, Ioannis U. Isaias, Martin M. Reich, +42

Brain

Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia

Joshua Hersheson, Niccolò E. Mencacci, Mary B. Davis, +15

Annals of Neurology

GeneticsCytoskeletonMolecular GeneticsDisease Gene IdentificationSynaptic Signaling +15

Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

Robert B. Hufnagel, Gavin Arno, Nichole D. Hein, +29

Journal of Medical Genetics

Extended phenotypic spectrum of <i>KIF5A</i> mutations

Yo-Tsen Liu, Matilde Laurá, Joshua Hersheson, +14

Neurology

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Anna Thomas, Hywel Williams, Núria Setó‐Salvia, +31

The American Journal of Human Genetics

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

Yubin Wang, Joshua Hersheson, Dulce Lopez, +19

Cell Reports

Knockout MouseDevelopmental BiologySynaptic SignalingGenetic DisorderGenetics +7

<i>ADCY5</i> mutations are another cause of benign hereditary chorea

Niccolò E. Mencacci, Roberto Erro, Sarah Wiethoff, +9

Neurology

Insights From Cerebellar Transcriptomic Analysis Into the Pathogenesis of Ataxia

Conceição Bettencourt, Mina Ryten, Paola Forabosco, +4

JAMA Neurology

H‐ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

Roberto Erro, Joshua Hersheson, Christos Ganos, +10

Movement Disorders

H-abc SyndromeNeurological DisorderGeneticsPathologyVariable Expressivity +20