Browse All

Current Filters

CLEAR FILTER x

TITLE

CSF Proteomic Profiling Reveals Altered Pathways in Myotonic Dystrophy Type 1

Author:Zafarullah, Marwa   Kamali, Tahereh   Hagerman, Katharine   Ghiglieri, Lisa   Sampson, Jacinda   Day, John   

Session Name:P2: Neuromuscular and Clinical Neurophysiology (EMG): Genetic Myopathies  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P2.029  

Author Institution:Stanford University School of Medicine, Sunnyvale, CA  Stanford University School of Medicine, Palo Alto, CA  

A Case of Mitochondrial Membrane Protein-associated Neurodegeneration (MPAN) Mimicking Amyotrophic Lateral Sclerosis (ALS)

Author:Mufuka, Howard   Peretz, Ryan   Maloney, Haley   Adler, Margaret   Singh, Sandeep   Urbano, Marissa   

Session Name:P2: Neuromuscular and Clinical Neurophysiology (EMG): Genetic Myopathies  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P2.030  

Author Institution:Harbor UCLA, Long Beach, CA  Harbor UCLA, Northridge, CA  

Novel DNA2 Mutation Leading to Mitochondrial DNA Deletions with MELAS-like Phenotype

Author:Datta, Abhigyan   Manousakis, Georgios   Chompoopong, Pitcha   

Session Name:P2: Neuromuscular and Clinical Neurophysiology (EMG): Genetic Myopathies  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P2.031  

Author Institution:University of Minnesota, Minneapolis, MN  

Homozygous and Compound Heterozygous Mutations in the CLCN1 Gene Causes Myotonia in Two Related Saudi Families

Author:Pagliarani, Serena   Alabdulwahed, Alwaleed   Monfrini, Edoardo   Lucchiari, Sabrina   Comi, Giacomo   Di Fonzo, Alessio   AlAhmari, Aawadh   Abulaban, Ahmed   AlEyaid, Wafaa   

Session Name:P2: Neuromuscular and Clinical Neurophysiology (EMG): Genetic Myopathies  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P2.032  

Author Institution:Department of Neurology, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs, Riyadh, Saudi Arabia, Riyadh, Saudi Arabia  

Peripheral Neuropathy in Myofibrillar Myopathies (MFM) and MFM Gene-related Myopathies

Author:Wannarong, Thapat   Milone, Margherita   Selcen, Duygu   Dyck, P. James B.   Liewluck, Teerin   

Session Name:P2: Neuromuscular and Clinical Neurophysiology (EMG): Genetic Myopathies  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P2.033  

Author Institution:Department of Neurology, Mayo Clinic, Rochester, MN, USA, Rochester, MN