Works matching DE "SPINAL muscular atrophy"
Results: 2562
Isolated exon 8 deletion in type 1 spinal muscular atrophy with bilateral optic atrophy: Unusual genetic mutation leading to unusual manifestation?
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- Journal of Postgraduate Medicine, 2012, v. 58, n. 4, p. 294, doi. 10.4103/0022-3859.105451
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- Article
Hirayama's disease: The importance of flexion magnetic resonance imaging.
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- Journal of Postgraduate Medicine, 2011, v. 57, n. 1, p. 48, doi. 10.4103/0022-3859.74289
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- Article
A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene (Communicated by Graham R. Taylor).
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- Human Mutation, 2003, v. 22, n. 2, p. 136, doi. 10.1002/humu.10245
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A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 geneCommunicated by Graham R. Taylor.
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- Human Mutation, 2003, v. 22, n. 2, p. 136, doi. 10.1002/humu.10245
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Determination of SMN1 and SMN2 copy number using TaqMan™ technologyCommunicated by Graham Taylor.
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- Human Mutation, 2003, v. 22, n. 1, p. 74, doi. 10.1002/humu.10221
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- Article
Determination of SMN1 and SMN2 copy number using TaqMan technology (Communicated by Graham Taylor).
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- Human Mutation, 2003, v. 22, n. 1, p. 74, doi. 10.1002/humu.10221
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Radiation-induced camptocormia and dropped head syndrome: Review and case report of radiation-induced movement disorders.
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- 2015
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- journal article
SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration.
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- Acta Neuropathologica, 2023, v. 146, n. 3, p. 477, doi. 10.1007/s00401-023-02607-8
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- Article
Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy.
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- Acta Neuropathologica, 2023, v. 145, n. 5, p. 611, doi. 10.1007/s00401-023-02554-4
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Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
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- Acta Neuropathologica, 2022, v. 144, n. 4, p. 707, doi. 10.1007/s00401-022-02475-8
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- Article
AR cooperates with SMAD4 to maintain skeletal muscle homeostasis.
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- Acta Neuropathologica, 2022, v. 143, n. 6, p. 713, doi. 10.1007/s00401-022-02428-1
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- Article
MEF2 impairment underlies skeletal muscle atrophy in polyglutamine disease.
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- Acta Neuropathologica, 2020, v. 140, n. 1, p. 63, doi. 10.1007/s00401-020-02156-4
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- Article
Synaptotagmin 13 is neuroprotective across motor neuron diseases.
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- Acta Neuropathologica, 2020, v. 139, n. 5, p. 837, doi. 10.1007/s00401-020-02133-x
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- Article
Human stem cell models of neurodegeneration: a novel approach to study mechanisms of disease development.
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- Acta Neuropathologica, 2014, v. 127, n. 2, p. 151, doi. 10.1007/s00401-013-1222-6
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- Article
The spinal muscular atrophy mouse model, SMAΔ7, displays altered axonal transport without global neurofilament alterations.
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- Acta Neuropathologica, 2011, v. 122, n. 3, p. 331, doi. 10.1007/s00401-011-0848-5
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- Article
Motor neuron disease clinically limited to the lower motor neuron is a diffuse TDP-43 proteinopathy.
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- Acta Neuropathologica, 2011, v. 121, n. 4, p. 509, doi. 10.1007/s00401-011-0797-z
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- Article
Pathogenesis of proximal autosomal recessive spinal muscular atrophy.
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- Acta Neuropathologica, 2008, v. 116, n. 3, p. 223, doi. 10.1007/s00401-008-0411-1
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- Article
Abnormal motoneuron migration, differentiation, and axon outgrowth in spinal muscular atrophy.
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- Acta Neuropathologica, 2008, v. 115, n. 3, p. 313, doi. 10.1007/s00401-007-0327-1
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- Article
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model.
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- Nature, 2011, v. 478, n. 7367, p. 123, doi. 10.1038/nature10485
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- Article
Gene Therapy in Pediatric Orthopedics.
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- Osteology, 2024, v. 4, n. 1, p. 33, doi. 10.3390/osteology4010003
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- Article
Viral Vectors in Gene Replacement Therapy.
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- Biochemistry (00062979), 2023, v. 88, n. 12/13, p. 2157, doi. 10.1134/S0006297923120179
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Treatment for Spinal Muscular Atrophy Using Onasemnogene Abeparvovec.
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- touchREVIEWS in Neurology, 2022, v. 18, n. 2, p. 133, doi. 10.17925/USN.2022.18.2.133
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- Article
Spinal Muskuler Atrofisi Olan Çocuğun Hemşirelik Bakımı.
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- Journal of Health Science Yuksek Ihtisas University / Yüksek İhtisas Üniversitesi Sağlık Bilimleri Dergisi, 2023, v. 4, n. 2, p. 63, doi. 10.51261/yiu.2023.1271182
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- Article
Is gene therapy in spinal muscular atrophy safe? A casereport of thrombotic microangiopathy following onasemnogene abeparvovec.
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- Journal of Pre-Clinical & Clinical Research, 2022, v. 16, n. 4, p. 143, doi. 10.26444/jpccr/154984
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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
Stranger Twins: A Tale of Resemblance and Contrast Between VAP Proteins.
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- Contact (25152564), 2023, v. 6, p. 1, doi. 10.1177/25152564231183897
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Recent therapeutic developments in spinal muscular atrophy.
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- Turkish Journal of Medical Sciences, 2018, v. 48, n. 2, p. 203, doi. 10.3906/sag-1712-1
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- Article
SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy.
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- Journal of Cell Biology, 2015, v. 211, n. 1, p. 77, doi. 10.1083/jcb.201502059
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- Article
Modeling spinal muscular atrophy in Drosophila links Smn to FGF signaling.
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- Journal of Cell Biology, 2011, v. 192, n. 3, p. 481, doi. 10.1083/jcb.201004016
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- Article
Defective Ca<sup>2+</sup> channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy.
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- Journal of Cell Biology, 2007, v. 179, n. 1, p. 139, doi. 10.1083/jcb.200703187
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- Article
Calcium channels SMA.
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- Journal of Cell Biology, 2007, v. 179, n. 1, p. 3, doi. 10.1083/jcb.1791iti4
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A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle.
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- Journal of Cell Biology, 2007, v. 176, n. 6, p. 831, doi. 10.1083/jcb.200610053
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- Article
Muscle first in neurodegenerative disease?
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- Journal of Cell Biology, 2007, v. 176, n. 6, p. 731, doi. 10.1083/jcb.1766iti1
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- Article
Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy.
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- Journal of Neurogenetics, 2024, v. 38, n. 3, p. 102, doi. 10.1080/01677063.2024.2407332
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A rapid molecular diagnostic method for spinal muscular atrophy.
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- Journal of Neurogenetics, 2021, v. 35, n. 1, p. 29, doi. 10.1080/01677063.2020.1853721
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Evaluation and characterization of a high-resolution melting analysis kit for rapid carrier-screening test of spinal muscular atrophy.
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- Journal of Neurogenetics, 2015, v. 29, n. 2/3, p. 113, doi. 10.3109/01677063.2015.1033098
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Homozygous EXOSC3 Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma.
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- Journal of Neurogenetics, 2013, v. 27, n. 4, p. 163, doi. 10.3109/01677063.2013.814651
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- Article
Deletion Analysis of SMN1 Exon 7 Alone May Be Necessary and Sufficient for the Diagnosis of Spinal Muscular Atrophy.
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- Journal of Neurogenetics, 2011, v. 25, n. 1/2, p. 15, doi. 10.3109/01677063.2011.559561
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- Article
Optimization of Long-Term Human iPSC-Derived Spinal Motor Neuron Culture Using a Dendritic Polyglycerol Amine-Based Substrate.
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- ASN Neuro (Sage Publications, Ltd.), 2022, v. 14, p. 1, doi. 10.1177/17590914211073381
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Current Aspects of Clinical Genetic Diagnosis in Werdnig-Hoffman Spinal Muscular Atrophy.
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- Medicina Moderna, 2018, v. 25, n. 3, p. 47
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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
Deletions of SMNI gene exon 7 and NAIP gene exon 5 in spinal muscular atrophy patients in selected population.
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- European Review for Medical & Pharmacological Sciences, 2023, v. 27, n. 17, p. 7935
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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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An Assessment of the Knowledge, Attitudes, and Practices of Patients and Families with Diagnoses of Hereditary Neuromuscular Disorders.
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- Neuroepidemiology, 2020, v. 54, n. 3, p. 265, doi. 10.1159/000505330
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Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and mice.
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- National Science Review, 2020, v. 7, n. 1, p. 92, doi. 10.1093/nsr/nwz131
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Neuromuscular junction pathology is correlated with differential motor unit vulnerability in spinal and bulbar muscular atrophy.
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- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01402-y
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- Article
Spinal Muscular Atrophy autophagy profile is tissue-dependent: differential regulation between muscle and motoneurons.
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- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01223-5
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Mitochondrial defects in the respiratory complex I contribute to impaired translational initiation via ROS and energy homeostasis in SMA motor neurons.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-01101-6
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Spinal muscular atrophy type III complicated by spinal superficial siderosis: a case report with molecular and neuropathological findings.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01063-9
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Impairment in dynein-mediated nuclear translocation by BICD2 C-terminal truncation leads to neuronal migration defect and human brain malformation.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00971-0
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- Article