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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, …
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 …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… in sialic acid metabolism and its associated human disorders. dr. gahl initiated clinical studies of gne … of gne myopathy with asymmetric hand weakness.  neuromuscular disorders , 24: 1063-1067. 2014. [ pubmed ] … i. gne myopathy: new name and new mutation nomenclature.  neuromuscular disorders , 24: 387-389. 2014. [ pubmed ] …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… bönnemann, m.d., national institute of neurological disorders and stroke , will use exome sequencing of 150 … mutations and phenotypes in a well-defined, pediatric, neuromuscular disorder cohort.   brian p. brooks, m.d., … 130 patients to research the genetic origins of lymphatic disorders .   alan t. remaley, m.d., ph.d., nhlbi , will use …
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, …
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… 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 …
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… 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 …
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… 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 …
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… 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 …