Miriam Y. Neufeld

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Leanne M. Dibbens, Patrick Tarpey, Kim Hynes et al. · Nature Genetics · 2008 · 441 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Mendelian Disorder +11

A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

Alexander G. Bassuk, Robyn H. Wallace, Aimee C. Buhr et al. · The American Journal of Human Genetics · 2008 · 241 citations · Full text

Human Prickle1, Mendelian Disorder, Genetic Disorder +7

Self‐Efficacy and Social Support as Mediators in the Relation Between Disease Severity and Quality of Life in Patients with Epilepsy

Marianne Amir, Ilan Roziner, Alon Knoll et al. · Epilepsia · 1999 · 193 citations · Full text

Epilepsy and mental retardation limited to females: an under-recognized disorder

Ingrid E. Scheffer, Samantha J. Turner, Leanne M. Dibbens et al. · Brain · 2008 · 193 citations · Full text

<i>SCN1A</i> duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

Carla Marini, Ingrid E. Scheffer, Rima Nabbout et al. · Epilepsia · 2009 · 170 citations · Full text