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Pathogenesis of X-Linked Charcot-Marie-Tooth Disease: Differential Effects of Two Mutations in Connexin 32.
- Published in:
- Journal of Neuroscience, 2003, v. 23, n. 33, p. 10548, doi. 10.1523/JNEUROSCI.23-33-10548.2003
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- Article
Interplay of IKK/NF-kappaB signaling in macrophages and myofibers promotes muscle degeneration in Duchenne muscular dystrophy.
- Published in:
- 2007
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- Publication type:
- journal article
Interplay of IKK/NF-B signaling in macrophages and myofibers promotes muscle degeneration in Duchenne muscular dystrophy.
- Published in:
- Journal of Clinical Investigation, 2007, v. 117, n. 4, p. 889, doi. 10.1172/JCI30556
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- Publication type:
- Article
Long‐term safety and functional outcomes of delandistrogene moxeparvovec gene therapy in patients with Duchenne muscular dystrophy: A phase 1/2a nonrandomized trial.
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- Muscle & Nerve, 2024, v. 69, n. 1, p. 93, doi. 10.1002/mus.27955
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- Publication type:
- Article
Efficacy of exogenous pyruvate in Trembler<sup>J</sup> mouse model of Charcot‐Marie‐Tooth neuropathy.
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- Brain & Behavior, 2018, v. 8, n. 10, p. N.PAG, doi. 10.1002/brb3.1118
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- Publication type:
- Article
A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family.
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- Brain & Behavior, 2017, v. 7, n. 8, p. n/a, doi. 10.1002/brb3.774
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- Publication type:
- Article
Impaired regeneration in calpain-3 null muscle is associated with perturbations in mTORC1 signaling and defective mitochondrial biogenesis.
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- Skeletal Muscle, 2017, v. 7, p. 1, doi. 10.1186/s13395-017-0146-6
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- Publication type:
- Article
Abnormalities in the axonal cytoskeleton induced by a connexin32 mutation in nerve xenografts.
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- Journal of Neuroscience Research, 1998, v. 51, n. 2, p. 174, doi. 10.1002/(SICI)1097-4547(19980115)51:2<174::AID-JNR6>3.0.CO;2-A
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- Publication type:
- Article
Update on the Treatment of Duchenne Muscular Dystrophy.
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- Current Neurology & Neuroscience Reports, 2013, v. 13, n. 3, p. 1, doi. 10.1007/s11910-012-0332-1
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- Publication type:
- Article
Impaired regeneration in LGMD2A supported by increased PAX7-positive satellite cell content and muscle-specific microrna dysregulation.
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- Muscle & Nerve, 2013, v. 47, n. 5, p. 731, doi. 10.1002/mus.23669
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- Publication type:
- Article
Camptocormia as a late presentation in a manifesting carrier of duchenne muscular dystrophy.
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- Muscle & Nerve, 2013, v. 47, n. 1, p. 124, doi. 10.1002/mus.23497
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- Publication type:
- Article
Knee extensor strength exhibits potential to predict function in sporadic inclusion-body myositis.
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- Muscle & Nerve, 2012, v. 45, n. 2, p. 163, doi. 10.1002/mus.22321
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- Publication type:
- Article
Direct immunofluoresence in vasculitic neuropathy: Specificity of vascular immune deposits.
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- Muscle & Nerve, 2010, v. 42, n. 1, p. 62, doi. 10.1002/mus.21639
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- Publication type:
- Article
Novel diagnostic features of dysferlinopathies.
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- Muscle & Nerve, 2010, v. 42, n. 1, p. 14, doi. 10.1002/mus.21650
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- Publication type:
- Article
Alterations in Nodes of Ranvier and Schmidt-Lanterman Incisures in Charcot-Marie-Tooth Neuropathies.
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- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 508, doi. 10.1111/j.1749-6632.1999.tb08623.x
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- Publication type:
- Article
Abnormal Schwann Cell-Axon Interactions in CMT Neuropathies: The Effects of Mutant Schwann Cells on the Axonal Cytoskeleton and Regeneration-Associated Myelination.
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- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 415, doi. 10.1111/j.1749-6632.1999.tb08602.x
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- Publication type:
- Article
A Phase 1/2a Follistatin Gene Therapy Trial for Becker Muscular Dystrophy.
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- Molecular Therapy, 2015, v. 23, n. 1, p. 192, doi. 10.1038/mt.2014.200
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- Publication type:
- Article
VIP-expressing Dendritic Cells Protect Against Spontaneous Autoimmune Peripheral Polyneuropathy.
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- Molecular Therapy, 2014, v. 22, n. 7, p. 1353, doi. 10.1038/mt.2014.77
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- Publication type:
- Article
Vascular Delivery of rAAVrh74.MCK.GALGT2 to the Gastrocnemius Muscle of the Rhesus Macaque Stimulates the Expression of Dystrophin and Laminin α2 Surrogates.
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- Molecular Therapy, 2014, v. 22, n. 4, p. 713, doi. 10.1038/mt.2013.246
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- Publication type:
- Article
AAV1.NT-3 Gene Therapy for Charcot-Marie-Tooth Neuropathy.
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- Molecular Therapy, 2014, v. 22, n. 3, p. 511, doi. 10.1038/mt.2013.250
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- Publication type:
- Article
Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy: A Nonrandomized Controlled Trial.
- Published in:
- JAMA Neurology, 2020, v. 77, n. 9, p. 1122, doi. 10.1001/jamaneurol.2020.1484
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- Publication type:
- Article
Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.
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- Brain: A Journal of Neurology, 2008, v. 131, n. 8, p. 1990, doi. 10.1093/brain/awn114
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- Publication type:
- Article
Neurotrophins and Peripheral Neuropathies.
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- Brain Pathology, 2006, v. 16, n. 4, p. 311, doi. 10.1111/j.1750-3639.2006.00038.x
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- Publication type:
- Article
Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy.
- Published in:
- 2016
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- Publication type:
- journal article
Eteplirsen for the treatment of Duchenne muscular dystrophy.
- Published in:
- Annals of Neurology, 2013, v. 74, n. 5, p. 637, doi. 10.1002/ana.23982
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- Publication type:
- Article
Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.
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- Annals of Neurology, 2010, v. 68, n. 5, p. 629, doi. 10.1002/ana.22251
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- Publication type:
- Article
Gentamicin-induced readthrough of stop codons in duchenne muscular dystrophy.
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- Annals of Neurology, 2010, v. 67, n. 6, p. 771, doi. 10.1002/ana.22024
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- Publication type:
- Article
Limb-girdle muscular dystrophy type 2D gene therapy restores α-sarcoglycan and associated proteins.
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- Annals of Neurology, 2009, v. 66, n. 3, p. 290, doi. 10.1002/ana.21732
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- Publication type:
- Article
Comparative Intravenous Toxicity of Cisplatin Solution and Cisplatin Encapsulated in Long-Circulating, Pegylated Liposomes in Cynomolgus Monkeys1.
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- Toxicological Sciences, 1998, v. 46, n. 1, p. 155, doi. 10.1093/toxsci/46.1.155
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- Article
AAV1.NT-3 gene therapy in a CMT2D model: phenotypic improvements in Gars<sup>P278KYI+</sup> mice.
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- Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab252
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- Publication type:
- Article
A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 2, p. 92, doi. 10.1002/mgg3.125
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- Publication type:
- Article
Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy.
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- Human Molecular Genetics, 2016, v. 25, n. 10, p. 1900, doi. 10.1093/hmg/ddw063
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- Publication type:
- Article
Micro-dystrophin and follistatin co-delivery restores muscle function in aged DMD model.
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- Human Molecular Genetics, 2013, v. 22, n. 24, p. 4929, doi. 10.1093/hmg/ddt342
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- Publication type:
- Article
Follistatin Gene Delivery Enhances Muscle Growth and Strength in Nonhuman Primates.
- Published in:
- Science Translational Medicine, 2009, v. 1, n. 6, p. 1, doi. 10.1126/scitranslmed.3000112
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- Publication type:
- Article
Alterations in slow transport kinetics induced by estramustine phosphate, an agent binding to microtubule-associated proteins.
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- Journal of Neuroscience Research, 1992, v. 32, n. 4, p. 481, doi. 10.1002/jnr.490320404
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- Publication type:
- Article
Persistent Expression of FLAG-tagged Micro dystrophin in Nonhuman Primates Following Intramuscular and Vascular Delivery.
- Published in:
- Molecular Therapy, 2010, v. 18, n. 1, p. 109, doi. 10.1038/mt.2009.254
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- Publication type:
- Article
914. Recombinant AAV Gene Delivery of Follistatin for Muscle Enhancement in Models of Muscular Dystrophy.
- Published in:
- Molecular Therapy, 2006, v. 13, p. S352, doi. 10.1016/j.ymthe.2006.08.1004
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- Publication type:
- Article
The Childhood Muscular Dystrophies: Diseases Sharing a Common Pathogenesis of Membrane Instability.
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- Journal of Child Neurology, 1995, v. 10, n. 2, p. 150, doi. 10.1177/088307389501000219
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- Publication type:
- Article
The Muscular Dystrophies: Distinct Pathogenic Mechanisms Invite Novel Therapeutic Approaches.
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- Current Rheumatology Reports, 2011, v. 13, n. 3, p. 199, doi. 10.1007/s11926-011-0178-6
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- Publication type:
- Article
AAV1.NT‐3 gene therapy in the SOD1KO mouse model of accelerated sarcopenia.
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- Journal of Cachexia, Sarcopenia & Muscle, 2023, v. 14, n. 5, p. 2204, doi. 10.1002/jcsm.13303
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- Publication type:
- Article
A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 21, p. 4239, doi. 10.1093/hmg/ddq343
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- Publication type:
- Article
Lesion level–dependent systemic muscle wasting after spinal cord injury is mediated by glucocorticoid signaling in mice.
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- Science Translational Medicine, 2023, v. 15, n. 727, p. 1, doi. 10.1126/scitranslmed.adh2156
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- Article
Effects of PMP22 duplication and deletions on the axonal cytoskeleton.
- Published in:
- 1999
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- Publication type:
- journal article
Corrigendum: Novel single base polymorphisms and rare sequence variants in the laminin α2-chain coding region detected by RNA/SSCP analysis.
- Published in:
- Human Mutation, 1999, v. 13, n. 4, p. 340, doi. 10.1002/(SICI)1098-1004(1999)13:4<340::AID-HUMU19>3.0.CO;2-E
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- Publication type:
- Article
Novel single base polymorphisms and rare sequence variants in the laminin α2-chain coding region detected by RNA/SSCP analysis.
- Published in:
- Human Mutation, 1999, v. 13, n. 2, p. 174, doi. 10.1002/(SICI)1098-1004(1999)13:2<174::AID-HUMU24>3.0.CO;2-P
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- Publication type:
- Article
Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy.
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- Human Mutation, 1998, v. 12, n. 2, p. 135, doi. 10.1002/(SICI)1098-1004(1998)12:2<135::AID-HUMU10>3.0.CO;2-6
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- Publication type:
- Article
Evidence for impaired axonal regeneration in PMP22 duplication: studies in nerve xenografts.
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- Journal of the Peripheral Nervous System, 2003, v. 8, n. 2, p. 116, doi. 10.1046/j.1529-8027.2003.03017.x
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- Publication type:
- Article
AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models.
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- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 3, p. 256, doi. 10.1002/acn3.172
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- Publication type:
- Article
Studies on the pathogenesis of vincristine-induced neuropathy.
- Published in:
- Muscle & Nerve, 1987, v. 10, n. 1, p. 80, doi. 10.1002/mus.880100115
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- Publication type:
- Article