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JAMA Neurology
|
November 24, 2015
Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review
Michele A Gatheridge, Jennifer M Kwon, Jerry M Mendell, et al.
Molecular Genetics and Metabolism
|
November 20, 2013
Experience, knowledge, and opinions about childhood genetic testing in Batten disease
Heather R Adams, Katherine Rose, Erika F Augustine, et al.
Neuromuscular Disorders : NMD
|
February 5, 2022
Newborn screening for spinal muscular atrophy: The Wisconsin first year experience
Mei W Baker, Sean T Mochal, Sandra J Dawe, et al.
Orphanet Journal of Rare Diseases
|
February 3, 2018
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease
Jennifer M Kwon, Dietrich Matern, Joanne Kurtzberg, et al.
Biological Psychiatry
|
September 27, 2005
Brain-derived neurotrophic factor and autoantibodies to neural antigens in sera of children with autistic spectrum disorders, Landau-Kleffner syndrome, and epilepsy
Anne M Connolly, Michael Chez, Elizabeth M Streif, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 24, 2016
Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation
Alex R Kemper, Jeffrey Brosco, Anne Marie Comeau, et al.
Developmental Medicine and Child Neurology
|
March 2, 2010
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease)
Heather R Adams, Christopher A Beck, Erika Levy, et al.
Contemporary Clinical Trials
|
May 1, 2013
Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates
Elisabeth A de Blieck, Erika F Augustine, Frederick J Marshall, et al.
Muscle & Nerve
|
May 13, 2016
Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal
Jennifer M Kwon, Hoda Z Abdel-Hamid, Samiah A Al-Zaidy, et al.
Journal of Neuromuscular Diseases
|
November 10, 2025
Onasemnogene abeparvovec gene therapy for treatment of patients with spinal muscular atrophy: Updated real-world practical considerations
Crystal M Proud, Elizabeth A Kichula, Susan E Matesanz, et al.
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of 5
Search research articles
Search
Showing results (21-30 of 47) with videos related to
Sort By:
Page
of 5
JAMA Neurology
|
November 24, 2015
Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review
Michele A Gatheridge, Jennifer M Kwon, Jerry M Mendell, et al.
Molecular Genetics and Metabolism
|
November 20, 2013
Experience, knowledge, and opinions about childhood genetic testing in Batten disease
Heather R Adams, Katherine Rose, Erika F Augustine, et al.
Neuromuscular Disorders : NMD
|
February 5, 2022
Newborn screening for spinal muscular atrophy: The Wisconsin first year experience
Mei W Baker, Sean T Mochal, Sandra J Dawe, et al.
Orphanet Journal of Rare Diseases
|
February 3, 2018
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease
Jennifer M Kwon, Dietrich Matern, Joanne Kurtzberg, et al.
Biological Psychiatry
|
September 27, 2005
Brain-derived neurotrophic factor and autoantibodies to neural antigens in sera of children with autistic spectrum disorders, Landau-Kleffner syndrome, and epilepsy
Anne M Connolly, Michael Chez, Elizabeth M Streif, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 24, 2016
Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation
Alex R Kemper, Jeffrey Brosco, Anne Marie Comeau, et al.
Developmental Medicine and Child Neurology
|
March 2, 2010
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease)
Heather R Adams, Christopher A Beck, Erika Levy, et al.
Contemporary Clinical Trials
|
May 1, 2013
Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates
Elisabeth A de Blieck, Erika F Augustine, Frederick J Marshall, et al.
Muscle & Nerve
|
May 13, 2016
Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal
Jennifer M Kwon, Hoda Z Abdel-Hamid, Samiah A Al-Zaidy, et al.
Journal of Neuromuscular Diseases
|
November 10, 2025
Onasemnogene abeparvovec gene therapy for treatment of patients with spinal muscular atrophy: Updated real-world practical considerations
Crystal M Proud, Elizabeth A Kichula, Susan E Matesanz, et al.
Page
of 5