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Identifying Biomarkers of Spinal Muscular Atrophy for Further Development.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 937, doi. 10.3233/JND-230054
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- Article
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study.
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- Muscle & Nerve, 2023, v. 68, n. 2, p. 157, doi. 10.1002/mus.27853
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- Article
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG).
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 389, doi. 10.3233/JND-221560
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- Article
Compilation and scaling strategies for a silicon quantum processor with sparse two-dimensional connectivity.
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- NPJ Quantum Information, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41534-023-00679-8
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- Article
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
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- Human Mutation, 2022, v. 43, n. 4, p. 511, doi. 10.1002/humu.24343
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- Article
TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function.
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- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 3, p. 375, doi. 10.1002/acn3.51523
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- Article
Assuring long-term safety of highly effective gene-modulating therapeutics for rare diseases.
- Published in:
- 2021
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- Publication type:
- journal article
Systematic review of the epidemiology of a single physical trauma and cancer.
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- Trauma, 2021, v. 23, n. 3, p. 175, doi. 10.1177/1460408621993757
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- Article
Growth in ataxia telangiectasia.
- Published in:
- 2021
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- Publication type:
- journal article
Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives.
- Published in:
- Journal of Multidisciplinary Healthcare, 2021, v. 14, p. 1637, doi. 10.2147/JMDH.S295486
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- Article
Growth in ataxia telangiectasia.
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- Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-01716-5
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- Article
Correction to: Growth in ataxia telangiectasia.
- Published in:
- 2021
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- Publication type:
- corrected article
Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study.
- Published in:
- Muscle & Nerve, 2021, v. 63, n. 5, p. 668, doi. 10.1002/mus.27187
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- Publication type:
- Article
Growth in ataxia telangiectasia.
- Published in:
- Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-01716-5
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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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- Article
Indoor Exposure to Selected Air Pollutants in the Home Environment: A Systematic Review.
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- International Journal of Environmental Research & Public Health, 2020, v. 17, n. 23, p. 8972, doi. 10.3390/ijerph17238972
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- Article
The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases.
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- Molecular Systems Biology, 2020, v. 16, n. 12, p. 1, doi. 10.15252/msb.20209701
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- Article
Using a global competence model in an instructional design course before social studies methods: A developmental approach to global teacher education.
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- Journal of Social Studies Research, 2020, v. 44, n. 4, p. 367, doi. 10.1016/j.jssr.2020.04.002
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- Article
Cardiometabolic risk prediction algorithms for young people with psychosis: a systematic review and exploratory analysis.
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- Acta Psychiatrica Scandinavica, 2020, v. 142, n. 3, p. 215, doi. 10.1111/acps.13212
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- Article
Cardiometabolic risk prediction algorithms and their suitability for young people suffering psychosis: a systematic review.
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- European Psychiatry, 2020, v. 63, p. S235
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- Article
Tidal Response of Mars Constrained From Laboratory‐Based Viscoelastic Dissipation Models and Geophysical Data.
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- Journal of Geophysical Research. Planets, 2019, v. 124, n. 11, p. 2703, doi. 10.1029/2019JE006015
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- Article
Description of Restrictively Defined Acute Flaccid Myelitis—Reply.
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- JAMA Pediatrics, 2019, v. 173, n. 7, p. 702, doi. 10.1001/jamapediatrics.2019.1272
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- Article
Neurofilament as a potential biomarker for spinal muscular atrophy.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 5, p. 932, doi. 10.1002/acn3.779
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- Article
Clinical Subpopulations in a Sample of North American Children Diagnosed With Acute Flaccid Myelitis, 2012-2016.
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- JAMA Pediatrics, 2019, v. 173, n. 2, p. 134, doi. 10.1001/jamapediatrics.2018.4890
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- Publication type:
- Article
Inferences of Mantle Viscosity Based on Ice Age Data Sets: The Bias in Radial Viscosity Profiles Due to the Neglect of Laterally Heterogeneous Viscosity Structure.
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- Journal of Geophysical Research. Solid Earth, 2018, v. 123, n. 9, p. 7237, doi. 10.1029/2018JB015740
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- Article
Two breakthrough gene-targeted treatments for spinal muscular atrophy: challenges remain.
- Published in:
- 2018
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- Publication type:
- journal article
Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.
- Published in:
- 2018
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- Publication type:
- journal article
Fifteen-year longitudinal follow-up of a patient with severe early-onset Charcot-Marie-Tooth disease type 2A.
- Published in:
- 2018
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- Publication type:
- journal 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
What should we tell shift workers to do to reduce their cancer risk?
- Published in:
- Occupational Medicine, 2018, v. 68, n. 1, p. 5, doi. 10.1093/occmed/kqx187
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- Article
Ataxia telangiectasia: a review.
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- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0543-7
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- Publication type:
- Article
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.
- Published in:
- 2016
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- Publication type:
- journal article
Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia.
- Published in:
- 2016
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- Publication type:
- journal article
Older workers--workplace health evidence-based practice?
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- Occupational Medicine, 2016, v. 66, n. 6, p. 424, doi. 10.1093/occmed/kqw023
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- Article
CLINICAL TRIALS IN THE PRECLINICAL TO MCI STAGES OF AD: CROSS-CULTURAL VALIDATION AND NORMATIVE STUDY OF THE TOMMORROW NEUROPSYCHOLOGICAL BATTERY.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P1189, doi. 10.1016/j.jalz.2016.07.140
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- Article
How to CHAIR an academic session.
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- British Journal of Dermatology, 2015, v. 173, n. 3, p. 859, doi. 10.1111/bjd.13738
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- Article
Astrocytes influence the severity of spinal muscular atrophy.
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- Human Molecular Genetics, 2015, v. 24, n. 14, p. 4094, doi. 10.1093/hmg/ddv148
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- Article
SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 248, doi. 10.1002/mgg3.141
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- Article
Teaching for Sustainability in a Social Studies Methods Course: Opportunities and Challenges.
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- Social Studies Research & Practice (Board of Trustees of the University of Alabama), 2015, v. 10, n. 2, p. 135, doi. 10.1108/ssrp-02-2015-b0012
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- Article
Non-Aggregating Tau Phosphorylation by Cyclin-Dependent Kinase 5 Contributes to Motor Neuron Degeneration in Spinal Muscular Atrophy.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 15, p. 6038, doi. 10.1523/JNEUROSCI.3716-14.2015
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- Article
Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability.
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- Human Mutation, 2015, v. 36, n. 1, p. 48, doi. 10.1002/humu.22691
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- Publication type:
- Article
High-Dose Glucocorticoid Therapy in the Management of Seizures in Neonatal Incontinentia Pigmenti: A Case Report.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 1, p. 100, doi. 10.1177/0883073813517509
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- Article
A Review of the Effectiveness of Respirators in Reducing Exposure to Polycyclic Aromatic Hydrocarbons for Coke Oven Workers.
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- Annals of Occupational Hygiene, 2014, v. 58, n. 8, p. 943, doi. 10.1093/annhyg/meu048
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- Article
A Review of the Effectiveness of Respirators in Reducing Exposure to Polycyclic Aromatic Hydrocarbons for Coke Oven Workers.
- Published in:
- 2014
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- Publication type:
- Journal Article
Brain glucose metabolism in adults with ataxia-telangiectasia and their asymptomatic relatives.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 6, p. 1753, doi. 10.1093/brain/awu092
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- 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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- Article
ALLOCATING TAX AND POWER: AN EXAMINATION OF THE NONADMITTED AND REINSURANCE REFORM ACT.
- Published in:
- Boston University Law Review, 2014, v. 94, n. 1, p. 305
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- Article
Pulmonary function in children and young adults with ataxia telangiectasia.
- Published in:
- Pediatric Pulmonology, 2014, v. 49, n. 1, p. 84, doi. 10.1002/ppul.22760
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- Article
Disorders of Upper Limb Movements in Ataxia-Telangiectasia.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067042
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- Article