News & Publications for:

Alan Pestronk

Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)

Posted on October 19, 2017

Jennifer A. Wambach, Georg M. Stettner, Tobias B. Haack, Karin Writzl, Andreja Škofljanec, Aleš Maver, Francina Munell, Stephan Ossowski, Mattia Bosio, Daniel J. Wegner, Marwan Shinawi, Dustin Baldridge, Bader Alhaddad, Tim M. Strom, Dorothy K. Grange, Ekkehard Wilichowski, Robin Troxell, James Collins, Barbara B. Warner, Robert E. Schmidt, Alan Pestronk, F. Sessions Cole, Robert Steinfeld: 2017 Human Mutation, Volume 38, Issue 11, November 2017, Pages 1477-1484 Read More

Posted in: HPAN, Neurodegeneration, Publications Faculty:

Clinical and Laboratory Profiles of Idiopathic Small Fiber Neuropathy in Children: Case Series

Posted on September 21, 2017

Jafar Kafaie; Ali Al Balushi; Minsoo Kim; Alan Pestronk: 2017 Journal of Clinical Neuromuscular Disease, Volume 19, Issue 1, Pages 31-37 Read More

Posted in: HPAN, Neurodegeneration, Publications Faculty:

Characterization of Strength and Function in Ambulatory Adults with GNE Myopathy

Posted on September 21, 2017

Zohar Argov; Faye Bronstein; Alicia Esposito; Yael Feinsod-Meiri; Julaine M. Florence; Eileen Fowler; Marcia B. Greenberg; Elizabeth C. Malkus; Odelia Rebibo; Catherine S. Siener; Yoseph Caraco; Edwin H. Kolodny; Heather A. Lau; Alan Pestronk; et al: 2017 Journal of Clinical Neuromuscular Disease, Volume 19, Issue 1, Pages 19-26 Read More

Posted in: HPAN, Neurodegeneration, Publications Faculty:

Defining SOD1 ALS natural history to guide therapeutic clinical trial design

Posted on July 11, 2016

Bali T, Self W, Liu J, et al: 2016 Neurodegeneration, doi:10.1136/jnnp-2016-313521 Read More

Posted in: HPAN, Neurodegeneration, NeuroRestorative Therapy, Publications Faculty: ,

Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis

Posted on June 5, 2016

Sansone VA, Burge J, McDermott MP, et al: 2016 Neurology, 86(15), pp 1408-1416 Read More

Posted in: HPAN, Neurodegeneration, Publications Faculty: