News & Publications for:

Alan Pestronk

Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis

Posted on June 26, 2013

Harms, M.B., Cady, J., Zaidman, C., Cooper, P., Bali, T., Allred, P., Cruchaga, C., Baughn, M., Libby, R.T., Pestronk, A., Goate, A., Ravits, J., Baloh, R.H.; (2013) Neurobiology of Aging, 34 (9), pp. 2234.e13-e19. Read More

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

An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study

Posted on June 3, 2013

Timothy M Miller, Alan Pestronk, William David, Jeff rey Rothstein, Ericka Simpson, Stanley H Appel, Patricia L Andres, Katy Mahoney, Peggy Allred, Katie Alexander, Lyle W Ostrow, David Schoenfeld, Eric A Macklin, Daniel A Norris, Georgios Manousakis, Matthew Crisp, Richard Smith, C Frank Bennett, Kathie M Bishop, Merit E Cudkowicz Read More

Posted in: HPAN, Publications Faculty: ,

Supplementary webappendix

Webappendix

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy

Posted on May 4, 2012

Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH (2012). Ann Neurol, 71(3):407-16 Read More

Posted in: Neurodegeneration, Neurogenetics, Pilot Projects, Publications Faculty: , ,

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

Posted on October 24, 2011

Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Howard MT, Sampson JB, Swoboda KJ, Bromberg MB, Mendell JR, Taylor LE, Anderson CB, Pestronk A, Florence JM, Connolly AM, Mathews KD, Wong B, Finkel RS, Bonnemann CG, Day JW, McDonald C; the United Dystrophinopathy Project Consortium, Weiss RB (2011). Hum Mutat, 32(3):299-308
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