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Comparative transcriptional and biochemical studies in muscle of myotonic dystrophies (DM1 and DM2).
- Published in:
- Neurological Sciences, 2009, v. 30, n. 3, p. 185, doi. 10.1007/s10072-009-0048-4
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- Publication type:
- Article
Gender difference in limb-girdle muscular dystrophy: a muscle fiber morphometric study in 101 patients.
- Published in:
- Clinical Neuropathology, 2014, v. 33, n. 3, p. 179, doi. 10.5414/NP300728
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- Publication type:
- Article
TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle.
- Published in:
- Journal of Pathology, 2012, v. 228, n. 2, p. 251, doi. 10.1002/path.4026
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- Publication type:
- Article
Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies.
- Published in:
- Scientific Reports, 2016, p. 32439, doi. 10.1038/srep32439
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- Publication type:
- Article
Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063536
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- Publication type:
- Article
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Progress and challenges in diagnosis of dysferlinopathy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Next generation sequencing detection of late onset pompe disease.
- Published in:
- 2016
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- Publication type:
- journal article
Reply.
- Published in:
- 2016
- By:
- Publication type:
- commentary
Incomplete penetrance in limb-girdle muscular dystrophy type 1F.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Dominant muscular dystrophy with a novel SYNE1 gene mutation.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 1, p. 145, doi. 10.1002/mus.24357
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- Publication type:
- Article
MUSCLE ATROPHY, UBIQUITIN-PROTEASOME, AND AUTOPHAGIC PATHWAYS IN DYSFERLINOPATHY.
- Published in:
- Muscle & Nerve, 2014, v. 50, p. 340, doi. 10.1002/mus.24167
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- Publication type:
- Article
Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy.
- Published in:
- Muscle & Nerve, 2014, v. 50, n. 3, p. 340, doi. 10.1002/mus.24167
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- Publication type:
- Article
Homozygous α-sarcoglycan mutation in two siblings: One asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient.
- Published in:
- Muscle & Nerve, 1998, v. 21, n. 6, p. 769, doi. 10.1002/(SICI)1097-4598(199806)21:6<769::AID-MUS9>3.0.CO;2-5
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- Publication type:
- Article
Changes in skeletal muscle histology and metabolism in patients undergoing exercise deconditioning: effect of propionyl-L-carnitine.
- Published in:
- 1997
- By:
- Publication type:
- journal article
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 974, doi. 10.1038/ejhg.2011.70
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- Publication type:
- Article
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 598, doi. 10.1038/ejhg.2008.193
- By:
- Publication type:
- Article
Impaired autophagy affects acid α-glucosidase processing and enzyme replacement therapy efficacy in late-onset glycogen storage disease type II.
- Published in:
- Neuropathology & Applied Neurobiology, 2015, v. 41, n. 5, p. 672, doi. 10.1111/nan.12214
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- Publication type:
- Article
Familial polyglucosan body myopathy with unusual phenotype.
- Published in:
- Neuropathology & Applied Neurobiology, 2015, v. 41, n. 3, p. 385, doi. 10.1111/nan.12171
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- Publication type:
- Article
Phenotype modulators in myophosphorylase deficiency.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 4, p. 497
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- Publication type:
- Article
Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 8, p. 2033, doi. 10.1007/s00415-013-6931-1
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- Publication type:
- Article
Comparison of muscle ultrastructure in myasthenia gravis with anti-MuSK and anti-AChR antibodies.
- Published in:
- Journal of Neurology, 2011, v. 258, n. 5, p. 746, doi. 10.1007/s00415-010-5823-x
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- Publication type:
- Article
Erratum to: Comparison of muscle ultrastructure in myasthenia gravis with anti-MuSK and anti-AChR antibodies.
- Published in:
- 2011
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- Publication type:
- Correction Notice
Long‐term follow‐up results in enzyme replacement therapy for Pompe disease: a case report.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 389, doi. 10.1007/s10545-010-9195-2
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- Publication type:
- Article
Neuromuscular damage after hyperthermic isolated limb perfusion in patients with melanoma or sarcoma treated with chemotherapeutic agents.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3746, doi. 10.1093/hmg/ddu088
- By:
- Publication type:
- Article
Autophagy dysregulation in Danon disease.
- Published in:
- Cell Death & Disease, 2017, v. 8, n. 1, p. e2565, doi. 10.1038/cddis.2016.475
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- Publication type:
- Article
Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2007, v. 451, n. 6, p. 1047, doi. 10.1007/s00428-007-0515-3
- By:
- Publication type:
- Article
Progress in enzyme replacement therapy in glycogen storage disease type II.
- Published in:
- Therapeutic Advances in Neurological Disorders, 2009, v. 2, n. 3, p. 143, doi. 10.1177/1756285609103324
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- Publication type:
- Article
Brief Communications.
- Published in:
- Journal of Child Neurology, 2000, v. 15, n. 1, p. 56
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- Publication type:
- Article
Transcriptional and translational effects of intronic CAPN3 gene mutations.
- Published in:
- Human Mutation, 2010, v. 31, n. 9, p. E1658, doi. 10.1002/humu.21320
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- Publication type:
- Article
Molecular and muscle pathology in a series of caveolinopathy patients.
- Published in:
- Human Mutation, 2005, v. 25, n. 1, p. 82, doi. 10.1002/humu.20119
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- Publication type:
- Article
Gene expression profiling in dysferlinopathies using a dedicated muscle microarray.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 26, p. 3283, doi. 10.1093/hmg/11.26.3283
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- Publication type:
- Article
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.
- Published in:
- Genes, 2018, v. 9, n. 11, p. 524, doi. 10.3390/genes9110524
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- Publication type:
- Article
Clinical and molecular study in congenital muscular dystrophy with partial laminin α2 (LAMA2) deficiency.
- Published in:
- Human Mutation, 2003, v. 21, n. 2, p. 103, doi. 10.1002/humu.10157
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- Publication type:
- Article
Private β- and γ-sarcoglycan gene mutations: Evidence of a founder effect in Northern Italy.
- Published in:
- Human Mutation, 2000, v. 16, n. 1, p. 13, doi. 10.1002/1098-1004(200007)16:1<13::AID-HUMU3>3.0.CO;2-V
- By:
- Publication type:
- Article
Ultrastructural changes in LGMD1F.
- Published in:
- Neuropathology, 2013, v. 33, n. 3, p. 276, doi. 10.1111/neup.12003
- By:
- Publication type:
- Article
Mutations That Disrupt the Carboxyl-Terminus of γ-Sarcoglycan Cause Muscular Dystrophy.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1841, doi. 10.1093/hmg/5.11.1841
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- Publication type:
- Article
Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: threshold effect for deletion size?
- Published in:
- 1996
- By:
- Publication type:
- journal article
Dystrophin-positive fibers in Duchenne dystrophy: origin and correlation to clinical course.
- Published in:
- 1995
- By:
- Publication type:
- journal article