News & Publications for:

Alan Pestronk

Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis

Posted on February 12, 2015

Conrad C. Weihl, Robert H. Baloh, Youjin Lee, Tsui-Fen Chou, Sara K. Pittman, Glenn Lopate, Peggy Allred, Jennifer Jockel-Balsarotti, and others; 2015, Neuromuscular Disorders Read More

Posted in: HPAN, Neurodegeneration, Neurogenetics, Publications Faculty: , ,

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes

Posted on January 29, 2015

Janet Cady, Peggy Allred, Taha Bali, Alan Pestronk, Alison Goate, Timothy M. Miller, Robi D. Mitra, John Ravits, Matthew B. Harms and Robert H. Baloh; 2015 Annals of Neurology, 77(1), pp100-113 Read More

Posted in: HPAN, Neurodegeneration, Neurogenetics, Publications Faculty: , ,

Regional Ischemic Immune Myopathy: A Paraneoplastic Dermatomyopathy

Posted on December 11, 2014

Cai, C., Alshehri, A., Choksi, R., Pestronk, A.; 2014 Journal of Neuropathology and Experimental Neurology; Volume 73(12), December 2014, p 1126–1133 Read More

Posted in: HPAN, Neurodegeneration, Publications Faculty:

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Posted on April 10, 2014

Janel O Johnson, Erik P Pioro, Ashley Boehringer, Ruth Chia, Howard Feit, Alan E Renton, Hannah A Pliner, Yevgeniya Abramzon, Giuseppe Marangi, Brett J Winborn, J Raphael Gibbs, Michael A Nalls, Sarah Morgan, Maryam Shoai, John Hardy, Alan Pittman, Richard W Orrell, Andrea Malaspina, Katie C Sidle, Pietro Fratta, Matthew B Harms, Robert H Baloh, Alan Pestronk, Conrad C Weihl, Ekaterina Rogaeva Lorne Zinman, Vivian E Drory, Giuseppe Borghero, Gabriele Mora, Andrea Calvo, Jeffrey D Rothstein, ITALSGEN, Carsten Drepper, Michael Sendtner, Andrew B Singleton, J Paul Taylor,Mark R Cookson, Gabriella Restagno, Mario Sabatelli, Robert Bowser, Adriano Chio & Bryan J Traynor; Nature Neuroscience (2014) Read More

Posted in: HPAN, Neurodegeneration, Neurogenetics, Publications Faculty: , ,

Coenzyme Q10 deficiency in children: Frequent type 2C muscle fibers with normal morphology

Posted on September 26, 2013

Sommerville RB, Zaidman CM, Pestronk A; (2013) Muscle and Nerve Read More

Posted in: Publications Faculty: