Found: 21
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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01400-0
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- Article
In vivo RyR1 reduction in muscle triggers a core-like myopathy.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01068-4
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- Article
Late endosome motility depends on lipids via the small GTPase Rab7.
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- EMBO Journal, 2002, v. 21, n. 6, p. 1289, doi. 10.1093/emboj/21.6.1289
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- Article
“Lowe syndrome: A particularly severe phenotype without clinical kidney involvement”.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 460, doi. 10.1002/ajmg.a.38572
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- Article
7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2133, doi. 10.1002/ajmg.a.36566
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- Article
Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome.
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- British Journal of Haematology, 2021, v. 192, n. 5, p. 909, doi. 10.1111/bjh.17346
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- Article
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
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- Molecular Genetics & Genomics, 2022, v. 297, n. 6, p. 1601, doi. 10.1007/s00438-022-01945-8
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- Article
Deletion of the microtubule-associated protein 6 (MAP6) results in skeletal muscle dysfunction.
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- Skeletal Muscle, 2018, v. 8, n. 1, p. N.PAG, doi. 10.1186/s13395-018-0176-8
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- Article
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
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- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0655-5
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- Article
Endosome-to-cytosol transport of viral nucleocapsids.
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- Nature Cell Biology, 2005, v. 7, n. 7, p. 653, doi. 10.1038/ncb1269
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- Article
Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.
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- Asian Journal of Andrology, 2015, v. 17, n. 1, p. 68, doi. 10.4103/1008-682X.13644
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- Article
Familial deep cavitating state with a glutathione metabolism defect.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 12, p. 2573, doi. 10.1002/acn3.50933
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- Article
Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq.
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- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.639226
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- Article
Tubulin tyrosination is a major factor affecting the recruitment of CAP-Gly proteins at microtubule plus ends.
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- Journal of Cell Biology, 2006, v. 174, n. 6, p. 839, doi. 10.1083/jcb.200512058
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- Article
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
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- Human Molecular Genetics, 2016, v. 25, n. 8, p. 1559, doi. 10.1093/hmg/ddw033
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- Article
OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
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- Human Molecular Genetics, 2015, v. 24, n. 4, p. 994, doi. 10.1093/hmg/ddu514
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- Article
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
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- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1483, doi. 10.1093/hmg/dds514
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- Article
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2759, doi. 10.1093/hmg/dds104
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- Article
Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.773177
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- Article
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.
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- Human Mutation, 2017, v. 38, n. 2, p. 152, doi. 10.1002/humu.23139
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- Article
Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.
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- Human Mutation, 2011, v. 32, n. 9, p. 995, doi. 10.1002/humu.21537
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- Article