Found: 13
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Inclusion body myopathy, Paget’s disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling.
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- Clinical Genetics, 2008, v. 74, n. 1, p. 54, doi. 10.1111/j.1399-0004.2008.00984.x
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- Article
Novel Twinkle ( PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
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- Journal of Neurology, 2008, v. 255, n. 9, p. 1384, doi. 10.1007/s00415-008-0926-3
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- Article
Effects of short‐to‐long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).
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- Neuropathology & Applied Neurobiology, 2018, v. 44, n. 5, p. 449, doi. 10.1111/nan.12414
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- Article
Expression of integrins in experimental autoimmune neuritis and guillain-barré syndrome.
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- Annals of Neurology, 1998, v. 44, n. 4, p. 611, doi. 10.1002/ana.410440406
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- Article
Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT).
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- 2013
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- Abstract
Peripheral nerve regeneration in the absence of glial fibrillary acidic protein.
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- 2004
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- Abstract
Dominant lamin A/C gene mutations can be associated with muscular dystrophy and peripheral neuropathy.
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- 2004
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- Abstract
Correction of metachromatic leukodystrophies (MLD) in the mouse model by transplantation of genetically modified hematopoietic stem cells.
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- 2004
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- Abstract
Unravelling the molecular basis of CMT4B pathology.
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- 2004
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- Abstract
CIDP associated with lung cancer: a paraneoplastic disease?
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- 2004
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- Abstract
Poems syndrome: role of two angiogenic factors, VEGF and EPO.
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- 2004
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- Abstract
TRANSGENIC MOUSE MODELS OF CHARCOT-MARIE-TOOTH 1b.
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- Journal of the Peripheral Nervous System, 2000, v. 5, n. 1, p. 39, doi. 10.1046/j.1529-8027.2000.00513-22.x
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- Article
PATHOGENESIS OF CONGENITAL HYPOMYELINATION REVEALED BY P0 OVEREXPRESSING MICE.
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- Journal of the Peripheral Nervous System, 2000, v. 5, n. 1, p. 47, doi. 10.1046/j.1529-8027.2000.00513-47.x
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- Article