Search Results

1 - 10 of 21
Staff
Dr. Kenneth Fischbeck is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute. ​
… studies the mechanisms of hereditary neurological and neuromuscular disorders, with the goal of developing effective treatments … M.D. … Kenneth Fischbeck, neurological disorders, neuromuscular disorders, Huntington's disease, muscular …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute. ​
… and laboratory interests focus on genetically-caused neuromuscular disorders of childhood. In his clinical practice, formerly at … devoted to diagnosing and treating children with complex neuromuscular and neurogenetic conditions. His team uses …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and … muscular atrophy (SMA) is the second leading cause of neuromuscular disease. It is usually inherited as an … Disorders, Progressive Muscle Degeneration And Weakness, Neuromuscular Disease, Adult-onset Spinal Muscular Atrophy, …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… from people with GNE Myopathy and other GNE-related disorders . Patients are followed over time to understand the … Genetics Home Reference: Inclusion body myopathy 2   Neuromuscular Disease Foundation (NDF)   World Without GNE Myopathy (WWGM)   Treat-NMD Neuromuscular Network   National Organization for Rare …
File
… 5 pm Break 3.45 - 4.45 pm Clinical Aspects of Cytogenetic Disorders Dr. Max Muenke , Director, Medical Genetics & … Speaker Sept. 8 th 8.00 - 8.15 am Survey 8.15 - 9.15 am Neuromuscular Disease Dr. Carsten Bonnemann , Senior Investigator, Neuromuscular & Neurogenetic Disorders Of Childhood Section, …
File
… of Health (NIH) and National Institute of Neurological Disorders and Stroke (NINDS) (Grant 1U54HG007479 -01) . 2. … C. Diagnostic evaluation of patients with complex neuromuscular & neurogenetic conditions without a definite … (Sept. 2017); Clinics (trials/therapies) for children with neuromuscular/neurodegenerative diseases. (University of Sri …
File
… representative to the HRSA Advisory Committee on Heritable Disorders in Newborns and Children Subcommittee (ACHDNC).  … National Task Force for Early Identification of Childhood Neuromuscular Disorders.  Alix D’Angelo is representing NSGC as a member …
File
… to the HRSA Discretionary Advisory Committee on Heritable Disorders in Newborns and Children Subcommittee (D ACHDNC) . … National Task Force for Early Identification of Childhood Neuromuscular Disorders . • Liz Varga is representing NSGC as a member of …
File
… on the HRSA Discretionary Advisory Committee on Heritable Disorders in Newborns and Children Subcommittee (D ACHDNC) . … National Task Force for Early Identification of Childhood Neuromuscular Disorders . • Liz Varga is representing NSGC as a member of …
File
… representative to the HRSA Advisory Committee on Heritable Disorders in Newborns and Children Subcommittee (ACHDNC).  … National Task Force for Early Identification of Childhood Neuromuscular Disorders.  Liz Varga is representing NSGC as a member of …