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Cancer-induced muscle atrophy is determined by intrinsic muscle oxidative capacity.
- Published in:
- FASEB Journal, 2021, v. 35, n. 7, p. 1, doi. 10.1096/fj.202100263R
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- Publication type:
- Article
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.
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- Neurogenetics, 2021, v. 22, n. 1, p. 53, doi. 10.1007/s10048-020-00630-5
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- Publication type:
- Article
Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA.
- Published in:
- Science Translational Medicine, 2021, v. 13, n. 578, p. 1, doi. 10.1126/scitranslmed.abb6871
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- Publication type:
- Article
Survival of motor neurone protein is required for normal postnatal development of the spleen.
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- Journal of Anatomy, 2017, v. 230, n. 2, p. 337, doi. 10.1111/joa.12546
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- Publication type:
- Article
Natural history of infantile-onset spinal muscular atrophy.
- Published in:
- 2017
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- Publication type:
- journal article
Emerging therapies and challenges in spinal muscular atrophy.
- Published in:
- 2017
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- Publication type:
- journal article
Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.
- Published in:
- Annals of Neurology, 2015, v. 77, n. 4, p. 668, doi. 10.1002/ana.24365
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- Publication type:
- Article
LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy.
- Published in:
- Annals of Neurology, 2013, v. 73, n. 4, p. 481, doi. 10.1002/ana.23819
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- Publication type:
- Article
Increased systemic HSP70B levels in spinal muscular atrophy infants.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 7, p. 1495, doi. 10.1002/acn3.51377
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- Publication type:
- Article
Whole‐blood dysregulation of actin‐cytoskeleton pathway in adult spinal muscular atrophy patients.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 7, p. 1158, doi. 10.1002/acn3.51092
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- Publication type:
- Article
Baseline results of the Neuro NEXT spinal muscular atrophy infant biomarker study.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 2, p. 132, doi. 10.1002/acn3.283
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- Publication type:
- Article
A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1045, doi. 10.1038/ejhg.2011.85
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- Publication type:
- Article
Mutilating hand syndrome in an infant with familial carpal tunnel syndrome.
- Published in:
- 1998
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- Publication type:
- journal article
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
- Published in:
- Nature Genetics, 2012, v. 44, n. 9, p. 1030, doi. 10.1038/ng.2358
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- Publication type:
- Article
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.06602
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- Publication type:
- Article
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
- Published in:
- 2019
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- Publication type:
- Correction Notice
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-08800-2
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- Publication type:
- Article
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06014-6
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- Publication type:
- Article
Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes.
- Published in:
- Child Neurology Open, 2018, v. 5, p. 1, doi. 10.1177/2329048X18789282
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- Publication type:
- Article
An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 6, p. 810, doi. 10.1002/acn3.51560
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- Publication type:
- Article
SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy.
- Published in:
- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0060113
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- Publication type:
- Article
Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study.
- Published in:
- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0035462
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- Publication type:
- Article
Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study.
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- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0033572
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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
Bone loss in survival motor neuron ( Smn<sup>−/−</sup> SMN2) genetic mouse model of spinal muscular atrophy.
- Published in:
- Journal of Pathology, 2009, v. 219, n. 1, p. 52, doi. 10.1002/path.2566
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- Publication type:
- Article
Sources and Physiological Significance of Plasma Dopamine Sulfate.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 7, p. 2523, doi. 10.1210/jcem.84.7.5864
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- Publication type:
- Article
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020026
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- Publication type:
- Article
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 241, doi. 10.1007/s00439-019-01983-0
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- Publication type:
- Article
Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment.
- Published in:
- 2019
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- Publication type:
- journal article
SMN-targeted therapeutics for spinal muscular atrophy: are we SMArt enough yet?
- Published in:
- 2014
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- Publication type:
- journal article
SMN-targeted therapeutics for spinal muscular atrophy are we SMArt enough yet?
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 2, p. 487, doi. 10.1172/JCI74142
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- Publication type:
- Article
Of SMN in mice and men: a therapeutic opportunity.
- Published in:
- 2011
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- Publication type:
- commentary
Unusual inclusions in cerebrospinal fluid macrophages of spinal muscular atrophy patients treated with nusinersen.
- Published in:
- 2021
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- Publication type:
- Case Study
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 2, p. 452, doi. 10.1093/brain/awn325
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- Publication type:
- Article
Position of Glycine Substitutions in the Triple Helix of COL6 A1, COL6 A2, and COL6 A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies.
- Published in:
- Human Mutation, 2013, v. 34, n. 11, p. 1558, doi. 10.1002/humu.22429
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- Publication type:
- Article
Synonymous Mutations in RNASEH2A Create Cryptic Splice Sites Impairing RNase H2 Enzyme Function in Aicardi- Goutières Syndrome.
- Published in:
- Human Mutation, 2013, v. 34, n. 8, p. 1066, doi. 10.1002/humu.22336
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- Publication type:
- Article
Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects.
- Published in:
- Human Mutation, 2011, v. 32, n. 4, p. 456, doi. 10.1002/humu.21472
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- Publication type:
- Article
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
- Published in:
- Human Mutation, 2011, v. 32, n. 3, p. 299, doi. 10.1002/humu.21426
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- Publication type:
- Article
Astrocytes influence the severity of spinal muscular atrophy.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 14, p. 4094, doi. 10.1093/hmg/ddv148
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- Publication type:
- Article
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: A neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 17, doi. 10.1002/ajmg.a.36189
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- Publication type:
- Article
Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 679, doi. 10.1002/ajmg.a.35756
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- Publication type:
- Article
Population Pharmacokinetics of Valproic Acid in Pediatric Patients With Epilepsy: Considerations for Dosing Spinal Muscular Atrophy Patients.
- Published in:
- Journal of Clinical Pharmacology, 2012, v. 52, n. 11, p. 1676, doi. 10.1177/0091270011428138
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- Publication type:
- Article
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study.
- Published in:
- Muscle & Nerve, 2023, v. 68, n. 2, p. 157, doi. 10.1002/mus.27853
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- Publication type:
- Article
Whole blood survival motor neuron protein levels correlate with severity of denervation in spinal muscular atrophy.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Resistance strength training exercise in children with spinal muscular atrophy.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Rasch analysis of clinical outcome measures in spinal muscular atrophy.
- Published in:
- Muscle & Nerve, 2014, v. 49, n. 3, p. 422, doi. 10.1002/mus.23937
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- Publication type:
- Article
SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy.
- Published in:
- 2014
- By:
- 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