Searching Far and Genome-Wide: The Relevance of Association Studies in Amyotrophic Lateral Sclerosis by Kelly A. Rich, Jennifer Roggenbuck, Stephen J. Kolb, Stephen J. Kolb

Get full text

Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry by Maysen Mesaros, Steven Lenz, Woobeen Lim, Jordan Brown, Luke Drury, Jennifer Roggenbuck

Get full text

Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders by Alayne P. Meyer, Jennifer Roggenbuck, Samantha LoRusso, John Kissel, Rachel M. Smith, David Kline, W. David Arnold

Get full text

Evidence‐based consensus guidelines for ALS genetic testing and counseling by Jennifer Roggenbuck, Breda H. F. Eubank, Joshua Wright, Matthew B. Harms, Stephen J. Kolb, the ALS Genetic Testing and Counseling Guidelines Expert Panel

Get full text

A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy by Jennifer Roggenbuck, Kelly Rich, Ana Morales, Christopher A. Tan, Douglas Eck, Wendy King, Matteo Vatta, Thomas Winder, Bakri Elsheikh, Ray E. Hershberger, John T. Kissel

Get full text

Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy by Kelly A. Rich, Tia Moscarello, Carly Siskind, Guy Brock, Christopher A. Tan, Matteo Vatta, Thomas L. Winder, Bakri Elsheikh, Leah Vicini, Brianna Tucker, Marilly Palettas, Ray E. Hershberger, John T. Kissel, Ana Morales, Jennifer Roggenbuck

Get full text