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Cover Image, Volume 179A, Number 2, February 2019.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. i, doi. 10.1002/ajmg.a.61059
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- Publication type:
- Article
A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 206, doi. 10.1002/ajmg.a.60690
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- Publication type:
- Article
Solving the puzzle of spinal muscular atrophy: What are the missing pieces?
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2836, doi. 10.1002/ajmg.a.36251
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- Publication type:
- Article
SMA CARNI-VAL TRIAL PART II: A Prospective, Single- Armed Trial of L-Carnitine and Valproic Acid in Ambulatory Children with Spinal Muscular Atrophy.
- Published in:
- PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0021296
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- Publication type:
- Article
SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy.
- Published in:
- PLoS ONE, 2010, v. 5, n. 8, p. 1, doi. 10.1371/journal.pone.0012140
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- Publication type:
- Article
Phase II Open Label Study of Valproic Acid in Spinal Muscular Atrophy.
- Published in:
- PLoS ONE, 2009, v. 4, n. 5, p. 1, doi. 10.1371/journal.pone.0005268
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- Publication type:
- Article
Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.
- Published in:
- 2018
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- Publication type:
- journal article
SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy.
- Published in:
- 2014
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- Publication type:
- journal article
SMA valiant trial: A prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy.
- Published in:
- Muscle & Nerve, 2014, v. 49, n. 2, p. 187, doi. 10.1002/mus.23904
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- Publication type:
- Article
Adrenocortical Functioning in Boys with Attention-Deficit/Hyperactivity Disorder: Examining Subtypes of ADHD and Associated Comorbid Conditions.
- Published in:
- Journal of Abnormal Child Psychology, 2009, v. 37, n. 4, p. 565, doi. 10.1007/s10802-008-9292-y
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- Publication type:
- Article
Generation of Conditional Knockout Alleles for PRUNE-1.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 4, p. 524, doi. 10.3390/cells12040524
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- Publication type:
- Article
A Newborn With Spinal Muscular Atrophy Type O Presenting With a Clinicopathological Picture Suggestive of Myotubular Myopathy.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 11, p. 1301, doi. 10.1177/0883073807307105
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- Publication type:
- Article
Perspectives on Clinical Trials in Spinal Muscular Atrophy.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 8, p. 957, doi. 10.1177/0883073807305665
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- Publication type:
- Article
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 3, p. 454, doi. 10.1093/hmg/ddp510
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- Publication type:
- Article
Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 14, p. 1605, doi. 10.1093/hmg/11.14.1605
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- Publication type:
- Article
Novel 3678delA mutation in exon 26 of the dystrophin gene causing duchenne muscular dystrophy.
- Published in:
- Human Mutation, 1998, v. 11, p. S23, doi. 10.1002/humu.1380110108
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- Publication type:
- Article
Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French — Canadian population.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 3, p. 459
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- Publication type:
- Article