Works matching DE "SPINAL muscular atrophy"
Results: 2555
Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03597-4
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- Article
The POLG Variant c.678G>C; p.(Gln226His) Is Associated with Mitochondrial Abnormalities in Fibroblasts Derived from a Patient Compared to a First-Degree Relative.
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- Genes, 2025, v. 16, n. 2, p. 198, doi. 10.3390/genes16020198
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- Article
The Socio-Economic Burden of Spinal Muscular Atrophy: A Cost-of-Illness Study in Bulgaria.
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- Healthcare (2227-9032), 2025, v. 13, n. 4, p. 401, doi. 10.3390/healthcare13040401
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- Article
Real-world analysis of the efficacy and safety of nusinersen in pediatric patients with spinal muscular atrophy.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03603-9
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- Article
MUTATIONAL ANALYSIS OF CREB BINDING SITES IN SMN2 GENE.
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- Malaysian Journal of Medical Sciences, 2008, p. 37
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- Article
DEVELOPMENT OF ALLELE SPECIFIC PCR FOR THE DETECTION OF HOMOZYGOUS DELETION OF THE SMN1 GENE IN SPINAL MUSCULAR ATROPHY (SMA) PATIENTS IN MALAYSIA.
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- Malaysian Journal of Medical Sciences, 2008, p. 36
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- Article
MOLECULAR ANALYSIS TEST OF SURVIVAL MOTOR NEURON GENE IN 118 MALAYSIAN SPINAL MUSCULAR ATROPHY (SMA) PATIENTS.
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- Malaysian Journal of Medical Sciences, 2008, p. 30
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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
Laminin induced local axonal translation of β-actin mRNA is impaired in SMN-deficient motoneurons.
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- Histochemistry & Cell Biology, 2012, v. 138, n. 5, p. 737, doi. 10.1007/s00418-012-0989-1
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- Article
Reorganization of Cajal bodies and nucleolar targeting of coilin in motor neurons of type I spinal muscular atrophy.
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- Histochemistry & Cell Biology, 2012, v. 137, n. 5, p. 657, doi. 10.1007/s00418-012-0921-8
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- Article
Taking the knife to neurodegeneration: a review of surgical gene therapy delivery to the CNS.
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- Acta Neurochirurgica, 2024, v. 166, n. 1, p. 1, doi. 10.1007/s00701-024-06028-8
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- Article
Investigation of Awareness Level of Spinal Muscular Atrophy Disease in Turkish Society.
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- Haydarpasa Numune Medical Journal, 2023, v. 63, n. 2, p. 137, doi. 10.14744/hnhj.2021.15945
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- Article
Upper Extremity Examination for Neuromuscular Diseases (U-EXTEND): Protocol for a Multimodal Feasibility Study.
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- JMIR Research Protocols, 2022, v. 11, n. 10, p. 224, doi. 10.2196/40856
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- Article
Rehabilitation in Spinal Muscular Atrophy: A Narrative Review.
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- European Journal of Therapeutics, 2023, v. 29, n. 3, p. 656, doi. 10.58600/eurjther1516
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- Article
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.
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- Human Genetics, 2023, v. 142, n. 1, p. 125, doi. 10.1007/s00439-022-02473-6
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- Article
Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA.
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- Human Genetics, 2022, v. 141, n. 2, p. 239, doi. 10.1007/s00439-021-02408-7
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- Article
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
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- Human Genetics, 2020, v. 139, n. 4, p. 483, doi. 10.1007/s00439-019-02105-6
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- Article
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
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- Human Genetics, 2019, v. 138, n. 3, p. 241, doi. 10.1007/s00439-019-01983-0
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- Article
Discharge of children affected by spinal muscular atrophy type 1 and type 2.
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- Pediatric Anesthesia & Critical Care Journal (PACCJ), 2015, v. 3, n. 2, p. 129, doi. 10.14587/paccj.2015.26
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- Article
Exploiting stochastic Petri nets with fuzzy parameters to predict efficient drug combinations for Spinal Muscular Atrophy.
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- Turkish Journal of Electrical Engineering & Computer Sciences, 2019, v. 27, n. 5, p. 4009, doi. 10.3906/elk-1902-133
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- Article
Swallowing function in patients with spinal muscular atrophy before and after the introduction of new gene-based therapies: what has changed?
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- Neurological Sciences, 2025, v. 46, n. 3, p. 1137, doi. 10.1007/s10072-024-07883-0
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- Article
Computed tomography-based radiological gynecomastia in SBMA as an independent differential diagnostic biomarker: a retrospective study.
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- Neurological Sciences, 2025, v. 46, n. 2, p. 783, doi. 10.1007/s10072-024-07820-1
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- Article
Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review.
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- Neurological Sciences, 2024, v. 45, n. 12, p. 5605, doi. 10.1007/s10072-024-07651-0
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- Article
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
Exploring variability in cognitive functioning in patients with spinal muscular atrophy: a scoping review.
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- Neurological Sciences, 2024, v. 45, n. 8, p. 3699, doi. 10.1007/s10072-024-07503-x
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- Article
Efficacy of leuprorelin in spinal and bulbar muscular atrophy: a 3-year observational study.
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- Neurological Sciences, 2024, v. 45, n. 8, p. 3853, doi. 10.1007/s10072-024-07410-1
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- Article
Nusinersen in adults with type 3 spinal muscular atrophy: long-term outcomes on motor and respiratory function.
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- Neurological Sciences, 2024, v. 45, n. 6, p. 2887, doi. 10.1007/s10072-024-07515-7
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- Article
Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion.
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- Neurological Sciences, 2024, v. 45, n. 2, p. 819, doi. 10.1007/s10072-023-07102-2
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- Article
An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy.
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- Neurological Sciences, 2023, v. 44, n. 9, p. 3303, doi. 10.1007/s10072-023-06867-w
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- Article
Nusinersen for adults with spinal muscular atrophy.
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- Neurological Sciences, 2023, v. 44, n. 7, p. 2393, doi. 10.1007/s10072-023-06698-9
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- Article
Nusinersen treatment in a type 3 spinal muscular atrophy patient during early pregnancy.
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- Neurological Sciences, 2023, v. 44, n. 5, p. 1803, doi. 10.1007/s10072-023-06618-x
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- Article
A severely affected adult type 2 spinal muscular atrophy patient treated with risdiplam.
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- Neurological Sciences, 2023, v. 44, n. 4, p. 1449, doi. 10.1007/s10072-022-06539-1
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- Article
Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.
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- Neurological Sciences, 2023, v. 44, n. 1, p. 329, doi. 10.1007/s10072-022-06403-2
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- Article
Prominent lower motor neuron involvement in patients with intermediate-length CAG repeats in ATXN3 gene.
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- 2022
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- Publication type:
- Letter
Small nerves are a distinguishing feature of spinal and bulbar muscular atrophy (SBMA).
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- 2022
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- Publication type:
- Letter
Ultrasonographic evaluation reveals thinning of cervical nerve roots and peripheral nerves in spinal and bulbar muscular atrophy.
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- 2022
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- Publication type:
- journal article
Discovery of specific mutations in spinal muscular atrophy patients by next-generation sequencing.
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- Neurological Sciences, 2021, v. 42, n. 5, p. 1827, doi. 10.1007/s10072-020-04697-8
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- Publication type:
- Article
SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the "2+0" genotype.
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- 2020
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- Publication type:
- journal article
Psychosocial impact of sport activity in neuromuscular disorders.
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- Neurological Sciences, 2020, v. 41, n. 9, p. 2561, doi. 10.1007/s10072-020-04345-1
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- Article
Neuromuscular diseases rehabilitation in the era of gene therapy.
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- 2020
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- Publication type:
- Letter
Carrier frequency of spinal muscular atrophy in Thailand.
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- 2019
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- Publication type:
- journal article
Is Hirayama a Gq1b disease?
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- 2019
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- Publication type:
- Case Study
Preliminary design and validation of the "6-K-scale" for bulbar symptoms evaluation in SBMA.
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- 2019
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- Publication type:
- journal article
Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care.
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- 2019
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- Publication type:
- journal article
Intrathecal administration of Nusinersen in type 1 SMA: successful psychological program in a single Italian center.
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- 2018
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- journal article
Comments on "Camptocormia as presenting in lower motor neuron disease with TARDBP mutation: case report".
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- 2017
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- Publication type:
- Letter
Camptocormia as an onset symptom of myasthenia gravis.
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- 2017
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- Publication type:
- Case Study
CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction.
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- 2016
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- Publication type:
- journal article
Genetic findings of Cypriot spinal muscular atrophy patients.
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- 2015
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- Publication type:
- journal article
Hirayama disease: the importance of adequate flexion MRI for diagnosis.
- Published in:
- 2015
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- Publication type:
- Letter