SarahHEvansMD

PubMed

• Introduction to leukodystrophy.
  Mi Ran Shin, Kylie Mortgart, Amy May, Sarah Helen Evans> ;Current Problems in Pediatric and Adolescent Health Care. 2023 Jan 1
• 15 citations
  A multi-disciplinary clinic for SCN8A-related epilepsy.
  John M. Schreiber, Laura Tochen, Mackenzie Brown, Sarah Evans, Laura J Ball, Adrian Bumbut, Rapeepat Thewamit, Matthew T. Whitehead, Chelsea L. Black, Emanuel M. Boutz...> ;Epilepsy Research. 2020 Jan 1
• 12 citations
  Mutations in SZT2 result in early‐onset epileptic encephalopathy and leukoencephalopathy
  Amy Pizzino, Matthew T. Whitehead, Parisa Sabet Rasekh, Jennifer L. Murphy, Guy Helman, Miriam Bloom, Sarah H. Evans, John G. Murnick, Joan A. Conry, Ryan J. Taft, Cas...> ;American Journal of Medical Genetics. Part A. 2018 Apr 25
• 10 citations
  Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.
  Alex Conant, Julian Curiel, Amy Pizzino, Parisa Sabetrasekh, Jennifer L. Murphy, Miriam Bloom, Sarah H. Evans, Guy Helman, Ryan J. Taft, Cas Simons, Matthew T. Whitehe...> ;Journal of Child Neurology. 2018 Jun 8
• 35 citations
  Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies
  Laura Adang, Omar Sherbini, Laura Ball, Miriam Bloom, Anil Darbari, Hernan Amartino, Donna DiVito, Florian Eichler, Maria L. Escolar, Sarah H. Evans, Ali Fatemi, Jamie...> ;Molecular Genetics and Metabolism. 2017 Sep 1
• 2 citations
  Hypertonia.
  Sarah Helen Evans, Mark William Cameron, Justin Michael Burton> ;Current Problems in Pediatric and Adolescent Health Care. 2017 Jul 1
• 29 citations
  Spina Bifida Management.
  Leslie A. Phillips, Justin M. Burton, Sarah Helen Evans> ;Current Problems in Pediatric and Adolescent Health Care. 2017 Jul 1
• 21 citations
  Obstetrical Brachial Plexus Palsy.
  Patricia O’Berry, Mackenzie Brown, Leslie A. Phillips, Sarah Helen Evans> ;Current Problems in Pediatric and Adolescent Health Care. 2017 Jul 1
• Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398].
  Leo Gotoh, Ken Inoue, Guy Helman, Sara Mora, Kiran Maski, Janet S. Soul, Miriam Bloom, Sarah H. Evans, Yu-ichi Goto, Ljubica Caldovic, Grace M. Hobson, Adeline Vanderver> ;Molecular Genetics and Metabolism. 2016 Nov 1
• 111 citations
  Whole exome sequencing in patients with white matter abnormalities.
  Adeline Vanderver, Cas Simons, Guy Helman, Joanna Crawford, Nicole I. Wolf, Geneviève Bernard, Amy Pizzino, Johanna L. Schmidt, Asako Takanohashi, David M. Miller, Ami...> ;Annals of Neurology. 2016 Jun 1
• 79 citations
  Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect
  Cas Simons, Laurie B. Griffin, Guy Helman, Gretchen Golas, Amy Pizzino, Miriam Bloom, Jennifer L. Murphy, Joanna Crawford, Sarah H. Evans, Scott Topper, Matthew T. Whi...> ;American Journal of Human Genetics. 2015 Apr 2
• 14 citations
  GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease
  Leo Gotoh, Ken Inoue, Guy Helman, Sara Mora, Kiran Maski, Janet S. Soul, Miriam Bloom, Sarah H. Evans, Yu-ichi Goto, Ljubica Caldovic, Grace M. Hobson, Adeline Vanderver> ;Molecular Genetics and Metabolism. 2014 Mar 1
• Increasing physical function through physiatric intervention for children with paediatric neurotransmitter disorders
  S. Evans, K. Forester, J. M. Pettiford, O. Morozova> ;Journal of Inherited Metabolic Disease. 2009 May 17
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