Found: 26
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The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 285, doi. 10.3233/JND-230129
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- Article
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-023-44611-2
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- Article
Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1.
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- Journal of Clinical Medicine, 2023, v. 12, n. 24, p. 7553, doi. 10.3390/jcm12247553
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- Article
Type I spinal muscular atrophy patients treated with nusinersen: 4‐year follow‐up of motor, respiratory and bulbar function.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 6, p. 1755, doi. 10.1111/ene.15768
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- Article
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
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- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 7, p. 1, doi. 10.1111/nan.12842
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- Article
Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course.
- Published in:
- Acta Myologica, 2022, v. 41, n. 3, p. 111, doi. 10.36185/2532-1900-07
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- Article
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
- Published in:
- 2022
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- Publication type:
- journal article
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.735488
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- Article
Growth patterns in children with spinal muscular atrophy.
- Published in:
- 2021
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- journal article
Management of respiratory complications and rehabilitation in individuals with muscular dystrophies: 1<sup>st</sup> Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Milan, January 25-26, 2019).
- Published in:
- Acta Myologica, 2021, v. 40, n. 1, p. 8, doi. 10.36185/2532-1900-045
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- Article
Type I SMA "new natural history": long‐term data in nusinersen‐treated patients.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 3, p. 548, doi. 10.1002/acn3.51276
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- Article
Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel.
- Published in:
- Biomedicines, 2021, v. 9, n. 1, p. 75, doi. 10.3390/biomedicines9010075
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- Article
Genetic modifiers of respiratory function in Duchenne muscular dystrophy.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 786, doi. 10.1002/acn3.51046
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- Article
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data.
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- 2019
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- Publication type:
- journal article
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial.
- Published in:
- 2019
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- Publication type:
- journal article
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings.
- Published in:
- Neurogenetics, 2019, v. 20, n. 3, p. 165, doi. 10.1007/s10048-019-00582-5
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- Article
Detection of early nocturnal hypoventilation in neuromuscular disorders.
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- Journal of International Medical Research, 2018, v. 46, n. 3, p. 1153, doi. 10.1177/0300060517728857
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- Article
Long-term outcome and need of re-operation in gastro-esophageal reflux surgery in children.
- Published in:
- 2016
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- Publication type:
- journal article
The 6 Minute Walk Test and Performance of Upper Limb in Ambulant Duchenne Muscular Dystrophy Boys.
- Published in:
- PLoS Currents, 2014, p. 497, doi. 10.1371/currents.md.a93d9904d57dcb08936f2ea89bca6fe6
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- Article
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
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- Journal of Neurology, 2013, v. 260, n. 7, p. 1866, doi. 10.1007/s00415-013-6896-0
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- Article
TRPV4 mutations in children with congenital distal spinal muscular atrophy.
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- Neurogenetics, 2012, v. 13, n. 3, p. 195, doi. 10.1007/s10048-012-0328-7
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- Article
Phenotypic characterization of hypomyelination and congenital cataract.
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- Annals of Neurology, 2007, v. 62, n. 2, p. 121, doi. 10.1002/ana.21175
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- Article
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.
- Published in:
- FASEB Journal, 2007, v. 21, n. 4, p. 1210, doi. 10.1096/fj.06-7285com
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- Article
Mitochondrial DNA Deletion in a Child With Mitochondrial Encephalomyopathy, Growth Hormone Deficiency, and Hypoparathyroidism.
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- Journal of Child Neurology, 2006, v. 21, n. 11, p. 983, doi. 10.1177/08830738060210111001
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- Article
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
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- Nature Genetics, 2006, v. 38, n. 10, p. 1111, doi. 10.1038/ng1870
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- Article
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.
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- Journal of Neurology, 2006, v. 253, n. 9, p. 1234, doi. 10.1007/s00415-006-0149-4
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- Article