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Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 7, p. 377, doi. 10.1038/jhg.2009.44
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- Publication type:
- Article
Three-tesla magnetic resonance neurography of the brachial plexus in cervical radiculopathy.
- Published in:
- Muscle & Nerve, 2015, v. 52, n. 3, p. 392, doi. 10.1002/mus.24560
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- Publication type:
- Article
Fibronectin receptor reduction in skin and fibroblasts of patients with Ullrich's disease.
- Published in:
- Muscle & Nerve, 2002, v. 26, n. 5, p. 696, doi. 10.1002/mus.10250
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- Publication type:
- Article
Lambert-Eaton myasthenic syndrome with ophthalmoparesis and pseudoblepharospasm.
- Published in:
- 1999
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- Publication type:
- journal article
Antibodies to potassium channels pc12 in serum of Isaacs' syndrome: Western blot and immunohistochemical studies.
- Published in:
- Muscle & Nerve, 1997, v. 20, n. 3, p. 299, doi. 10.1002/(SICI)1097-4598(199703)20:3<299::AID-MUS6>3.0.CO;2-6
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- Publication type:
- Article
Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement: Clinical, Pathological, and Genetic Features.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 449, doi. 10.1111/j.1749-6632.1999.tb08607.x
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- Publication type:
- Article
Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications.
- Published in:
- Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01847-3
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- Publication type:
- Article
Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01847-3
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- Publication type:
- Article
Capillary changes in skeletal muscle of patients with Ullrich's disease with collagen VI deficiency.
- Published in:
- Acta Neuropathologica, 2003, v. 106, n. 2, p. 137, doi. 10.1007/s00401-003-0714-1
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- Publication type:
- Article
Miyoshi myopathy patients with novel 5' splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma.
- Published in:
- Acta Neuropathologica, 2002, v. 104, n. 6, p. 615, doi. 10.1007/s00401-002-0593-x
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- Publication type:
- Article
Electron microscopic abnormalities of skeletal muscle in patients with collagen VI deficiency in Ullrich's disease.
- Published in:
- Acta Neuropathologica, 2002, v. 104, n. 1, p. 67, doi. 10.1007/s00401-002-0522-z
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- Publication type:
- Article
Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation.
- Published in:
- Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1241678
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- Publication type:
- Article
Epidemiology of Progressive Muscular Dystrophy in Okinawa, Japan.
- Published in:
- Neuroepidemiology, 1991, v. 10, n. 4, p. 185, doi. 10.1159/000110268
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- Publication type:
- Article
Frameshift mutation in the collagen VI gene causes Ullrich's disease.
- Published in:
- 2001
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- Publication type:
- journal article
Collagen VI deficiency in Ullrich's disease.
- Published in:
- Annals of Neurology, 2001, v. 49, n. 4, p. 544, doi. 10.1002/ana.109
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- Publication type:
- Article
A new type of hereditary motor and sensory neuropathy linked to chromosome 3.
- Published in:
- Annals of Neurology, 1997, v. 41, n. 6, p. 771, doi. 10.1002/ana.410410613
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- Publication type:
- Article
Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.
- Published in:
- Neurogenetics, 2006, v. 7, n. 3, p. 175, doi. 10.1007/s10048-006-0046-0
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- Publication type:
- Article
Association of a particular amino acid sequence of the HLA-DR β1 chain with HTLV-I-associated myelopathy.
- Published in:
- European Journal of Immunology, 1990, v. 20, n. 7, p. 1603, doi. 10.1002/eji.1830200729
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- Publication type:
- Article
Serum of Isaacs' syndrome suppresses potassium channels in PC-12 cell lines.
- Published in:
- Muscle & Nerve, 1996, v. 19, n. 11, p. 1439, doi. 10.1002/mus.880191102
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- Publication type:
- Article
Successful development of novel monoclonal antibodies against HTLV-1 bZIP factor and their applications in studying the pathogenesis of HAM/TSP.
- Published in:
- 2011
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- Publication type:
- Abstract