Reema Paudel

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

Juliane Neumann, José Brás, Emma Deas et al. · Brain · 2009 · 685 citations · Full text

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

Guida Landouré, Anselm A. Zdebik, Tara Martinez et al. · Nature Genetics · 2009 · 332 citations · Full text

Genetic Disorder, Pathogenesis, Pathology +3

<i>SNCA</i> variants are associated with increased risk for multiple system atrophy

Sonja W. Scholz, Henry Houlden, Claudia Schulte et al. · Annals of Neurology · 2009 · 279 citations

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

Joshua Hersheson, Niccolò E. Mencacci, Mary B. Davis et al. · Annals of Neurology · 2012 · 178 citations · Full text

Genetics, Cytoskeleton, Molecular Genetics +17

Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons

Samuel S. Pappas, Katherine Darr, Sandra M. Holley et al. · eLife · 2015 · 128 citations · Full text

Striatal Cholinergic Neurons, Developmental Biology, Neuroanatomy +14