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Journal of Child Neurology
|
September 1, 2007
Perspectives on clinical trials in spinal muscular atrophy
Kathryn J Swoboda, John T Kissel, Thomas O Crawford, et al.
Human Molecular Genetics
|
May 1, 1997
Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations
K Ohno, P A Quiram, M Milone, et al.
Human Molecular Genetics
|
April 26, 2015
Astrocytes influence the severity of spinal muscular atrophy
Hansjörg Rindt, Zhihua Feng, Chiara Mazzasette, et al.
Journal of Neuromuscular Diseases
|
April 5, 2018
Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening
Jacqueline Glascock, Jacinda Sampson, Amanda Haidet-Phillips, et al.
Annals of Neurology
|
July 6, 2004
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations
Pankaj B Agrawal, Corinne D Strickland, Charles Midgett, et al.
The Journal of Cell Biology
|
December 10, 2003
NF-M is an essential target for the myelin-directed "outside-in" signaling cascade that mediates radial axonal growth
Michael L Garcia, Christian S Lobsiger, Sameer B Shah, et al.
Molecular Genetics & Genomic Medicine
|
August 7, 2015
SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR
Deborah L Stabley, Ashlee W Harris, Jennifer Holbrook, et al.
The Journal of Biological Chemistry
|
December 13, 1996
Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy
D Jung, F Duclos, B Apostol, et al.
Plos One
|
May 5, 2012
Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study
Richard S Finkel, Thomas O Crawford, Kathryn J Swoboda, et al.
The Journal of Allergy and Clinical Immunology
|
November 9, 2024
Prevalence and outcomes of cancer and treatment-associated toxicities for patients with ataxia telangiectasia
Aimee Magnarelli, Qi Liu, Fan Wang, et al.
Page
of 19
Search research articles
Search
Showing results (141-150 of 190) with videos related to
Sort By:
Page
of 19
Journal of Child Neurology
|
September 1, 2007
Perspectives on clinical trials in spinal muscular atrophy
Kathryn J Swoboda, John T Kissel, Thomas O Crawford, et al.
Human Molecular Genetics
|
May 1, 1997
Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations
K Ohno, P A Quiram, M Milone, et al.
Human Molecular Genetics
|
April 26, 2015
Astrocytes influence the severity of spinal muscular atrophy
Hansjörg Rindt, Zhihua Feng, Chiara Mazzasette, et al.
Journal of Neuromuscular Diseases
|
April 5, 2018
Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening
Jacqueline Glascock, Jacinda Sampson, Amanda Haidet-Phillips, et al.
Annals of Neurology
|
July 6, 2004
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations
Pankaj B Agrawal, Corinne D Strickland, Charles Midgett, et al.
The Journal of Cell Biology
|
December 10, 2003
NF-M is an essential target for the myelin-directed "outside-in" signaling cascade that mediates radial axonal growth
Michael L Garcia, Christian S Lobsiger, Sameer B Shah, et al.
Molecular Genetics & Genomic Medicine
|
August 7, 2015
SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR
Deborah L Stabley, Ashlee W Harris, Jennifer Holbrook, et al.
The Journal of Biological Chemistry
|
December 13, 1996
Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy
D Jung, F Duclos, B Apostol, et al.
Plos One
|
May 5, 2012
Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study
Richard S Finkel, Thomas O Crawford, Kathryn J Swoboda, et al.
The Journal of Allergy and Clinical Immunology
|
November 9, 2024
Prevalence and outcomes of cancer and treatment-associated toxicities for patients with ataxia telangiectasia
Aimee Magnarelli, Qi Liu, Fan Wang, et al.
Page
of 19