Works matching Muscular atrophy
Results: 5000
Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations.
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- Neurological Sciences, 2024, v. 45, n. 9, p. 4583, doi. 10.1007/s10072-024-07613-6
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- Article
Vrodené non-5q proximálne spinálne svalové atrofie u detí.
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- Neurologie Pro Praxi, 2022, v. 23, n. 1, p. 14, doi. 10.36290/neu.2021.074
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- Article
The ultrastructure of peripheral nerve, motor end-plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1).
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- Acta Neuropathologica, 2005, v. 110, n. 3, p. 289, doi. 10.1007/s00401-005-1056-y
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- Article
脊髓性肌萎缩症治疗研究进展.
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- Chinese Journal of Contemporary Pediatrics, 2022, v. 24, n. 2, p. 204, doi. 10.7499/j.issn.1008-8830.2110041
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- Article
Reorganization of the nuclear compartments involved in transcription and RNA processing in myonuclei of type I spinal muscular atrophy.
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- Histochemistry & Cell Biology, 2019, v. 152, n. 3, p. 227, doi. 10.1007/s00418-019-01792-6
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- Article
Neuroprotective Effect of Non-viral Gene Therapy Treatment Based on Tetanus Toxin C-fragment in a Severe Mouse Model of Spinal Muscular Atrophy.
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- Frontiers in Molecular Neuroscience, 2016, p. 1, doi. 10.3389/fnmol.2016.00076
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- Article
High-Frequency Chest-Wall Oscillation in a Noninvasive-Ventilation-Dependent Patient With Type 1 Spinal Muscular Atrophy.
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- Respiratory Care, 2011, v. 56, n. 11, p. 1840, doi. 10.4187/respcare.01155
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- Article
A novel Xp11.22–22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1606
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- Article
Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait.
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- 2024
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- Case Study
Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency.
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- Journal of Medicine & Life, 2021, v. 14, n. 3, p. 424, doi. 10.25122/jml-2021-0147
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- Article
Identification of UBA1 as the causative gene of an X‐linked non‐Kennedy spinal–bulbar muscular atrophy.
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- European Journal of Neurology, 2022, v. 29, n. 12, p. 3556, doi. 10.1111/ene.15528
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- Article
Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots.
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- Genes, 2021, v. 12, n. 10, p. 1621, doi. 10.3390/genes12101621
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- Article
Spinal muscular atrophy type 1 in the Caribbean: the first case report from the Dominican Republic.
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- Frontiers in Neuroscience, 2025, p. 1, doi. 10.3389/fnins.2024.1476977
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- Article
Caracterización clínico-funcional de pacientes con atrofia muscular espinal en el centro-occidente colombiano.
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- Biomédica: Revista del Instituto Nacional de Salud, 2022, v. 42, p. 1
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- Article
"...They were just treating her Symptom by Symptom": maternal experiences of having a child with spinal muscular atrophy in Ghana.
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- BMC Palliative Care, 2025, v. 24, n. 1, p. 1, doi. 10.1186/s12904-025-01651-3
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- Article
Cardiac function evaluation in children with spinal muscular atrophy: A case–control study.
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- Pediatrics International, 2024, v. 66, n. 1, p. 1, doi. 10.1111/ped.15769
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- Article
Clinical research advance of therapeutic strategies for spinal muscular atrophy.
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- Chinese Journal of Contemporary Neurology & Neurosurgery, 2019, v. 19, n. 6, p. 385, doi. 10.3969/j.issn.1672-6731.2019.06.003
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- Article
A comprehensive institutional overview of intrathecal nusinersen injections for spinal muscular atrophy.
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- 2018
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- Publication type:
- journal article
Mislocalization of SMN from the I-band and M-band in human skeletal myofibers in spinal muscular atrophy associates with primary structural alterations of the sarcomere.
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- Cell & Tissue Research, 2020, v. 381, n. 3, p. 461, doi. 10.1007/s00441-020-03236-3
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- Article
Disease Burden in Children With Spinal Muscular Atrophy: Results From a Large Cross-Sectional Study.
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- Journal of Child Neurology, 2023, v. 38, n. 1/2, p. 52, doi. 10.1177/08830738221135918
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- Article
The Experience of Families With Children With Spinal Muscular Atrophy Type I Across Health Care Systems.
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- Journal of Child Neurology, 2017, v. 32, p. 917, doi. 10.1177/0883073817716853
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- Article
Intrathecal Injections in Children With Spinal Muscular Atrophy.
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- Journal of Child Neurology, 2016, v. 31, n. 7, p. 899, doi. 10.1177/0883073815627882
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- Article
Reliability and Validity of Outcome Measures of In-Hospital and At-Home Visits in a Randomized, Double-Blind, Placebo-Controlled Trial for Spinal Muscular Atrophy.
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- Journal of Child Neurology, 2014, v. 29, n. 12, p. 1680, doi. 10.1177/0883073813506935
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- Article
Magnetic resonance reveals mitochondrial dysfunction and muscle remodelling in spinal muscular atrophy.
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- 2022
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- Publication type:
- journal article
Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion.
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- Acta Neuropathologica, 2004, v. 107, n. 5, p. 475, doi. 10.1007/s00401-004-0825-3
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- Article
Impacto de la caracterización genómica en pacientes con atrofia muscular espinal no 5q.
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- Revista Med, 2023, v. 31, n. 1, p. 25, doi. 10.18359/rmed.6645
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- Article
'A short time but a lovely little short time': Bereaved parents' experiences of having a child with spinal muscular atrophy type 1.
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- 2016
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- Publication type:
- journal article
Spinal Muscular Atrophy Type IIIb Complicated by Moyamoya Syndrome: A Case Report and Literature Review.
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- Frontiers in Cellular Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fncel.2022.811596
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- Article
Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 19, p. 14873, doi. 10.3390/ijms241914873
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- Article
Response to the Canadian Agency for Drugs and Technologies in Health and Institut national d'excellence en santé et en services sociaux decision regarding nusinersen for Spinal Muscular Atrophy.
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- Canadian Journal of Neurological Sciences, 2018, v. 45, n. 5, p. 516, doi. 10.1017/cjn.2018.59
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- Article
A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4).
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- Frontiers in Genetics, 2022, v. 12, p. 1, doi. 10.3389/fgene.2021.801253
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- Article
Corrigendum: Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy.
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- 2021
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- Correction Notice
Activating ATF6 in spinal muscular atrophy promotes SMN expression and motor neuron survival through the IRE1α‐XBP1 pathway.
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- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 5, p. 1, doi. 10.1111/nan.12816
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- Article
NADPH oxidase 4 inhibition is a complementary therapeutic strategy for spinal muscular atrophy.
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- Frontiers in Cellular Neuroscience, 2023, p. 1, doi. 10.3389/fncel.2023.1242828
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- Article
Nociceptive pain in adult patients with 5q-spinal muscular atrophy type 3: a cross-sectional clinical study.
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- Journal of Neurology, 2023, v. 270, n. 1, p. 250, doi. 10.1007/s00415-022-11351-0
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- Article
Anesthetic management of pediatric patients undergoing intrathecal nusinersen administration for treatment of spinal muscular atrophy: A single‐center experience.
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- Pediatric Anesthesia, 2021, v. 31, n. 2, p. 160, doi. 10.1111/pan.13964
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- Article
Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 58, doi. 10.3390/ijns10030058
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- Article
Longitudinal data collection in pediatric and adult patients with 5q spinal muscular atrophy in Latin America: LATAM RegistrAME study - a clinical registry study protocol.
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- Einstein (16794508), 2024, v. 22, p. 1, doi. 10.31744/einstein_journal/2024AE1133
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- Article
A mixed method study on the impact of living with spinal muscular atrophy in Malaysia from patients' and caregivers' perspectives.
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- 2022
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- Publication type:
- journal article
Surgical correction of a ventricular septal defect in a child with spinal muscular atrophy type 2 treated with nusinersen sodium: a case report.
- Published in:
- 2023
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- Publication type:
- Case Study
Onasemnogene Abeparvovec (AVXS-101) for the Treatment of Spinal Muscular Atrophy.
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- Journal of Pediatric Pharmacology & Therapeutics, 2021, v. 26, n. 5, p. 437, doi. 10.5863/1551-6776-26.5.437
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- Article
诺西那生钠治疗脊髓性肌萎缩症儿童的临床分析.
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- Chinese Journal of Contemporary Pediatrics, 2024, v. 26, n. 7, p. 743, doi. 10.7499/j.issn.1008-8830.2401082
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- Article
117 例儿童脊髓性肌萎缩症自然病史分析.
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- Chinese Journal of Contemporary Pediatrics, 2021, v. 23, n. 10, p. 1038, doi. 10.7499/j.issn.1008-8830.2106025
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- Article
Current Aspects of Clinical Genetic Diagnosis in Werdnig-Hoffman Spinal Muscular Atrophy.
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- Medicina Moderna, 2015, v. 22, n. 1, p. 47
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- Article
Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman.
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- Sultan Qaboos University Medical Journal, 2017, v. 17, n. 3, p. 355, doi. 10.18295/squmj.2017.17.03.018
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- Article
SMN1 and NAIP genes deletions in different types of spinal muscular atrophy in Khuzestan province, Iran.
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- Medical Journal of the Islamic Republic of Iran, 2011, v. 25, n. 4, p. 216
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- Article
Variations of IGHMBP2 Gene Was Not the Major Cause of Han Chinese Patients With Non-5q-Spinal Muscular Atrophies.
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- Journal of Child Neurology, 2014, v. 29, n. 8, p. NP35, doi. 10.1177/0883073813497827
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- Article
Age at Disease Onset Predicts Likelihood and Rapidity of Growth Failure Among Infants and Young Children With Spinal Muscular Atrophy Types 1 and 2.
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- Journal of Child Neurology, 2012, v. 27, n. 7, p. 845, doi. 10.1177/0883073811415680
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- Article
Validation of the Expanded Hammersmith Functional Motor Scale in Spinal Muscular Atrophy Type II and III.
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- Journal of Child Neurology, 2011, v. 26, n. 12, p. 1499, doi. 10.1177/0883073811420294
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- Article
Infantile Spinal Muscular Atrophy With Respiratory Distress Type 1: A Case Report.
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- 2010
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- Publication type:
- Case Study