Found: 30
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Glycogen storage disease type II diagnosed in a 74-year-old woman.
- Published in:
- 2004
- By:
- Publication type:
- Journal Article
Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.
- Published in:
- 1999
- By:
- Publication type:
- journal article
MELAS: clinical features, biochemistry, and molecular genetics.
- Published in:
- 1992
- By:
- Publication type:
- journal article
Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies.
- Published in:
- Annals of Neurology, 1990, v. 28, n. 1, p. 94, doi. 10.1002/ana.410280118
- By:
- Publication type:
- Article
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 10, p. 809, doi. 10.1038/sj.ejhg.5200547
- By:
- Publication type:
- Article
Association of Myasthenia Gravis and Antisynthetase Syndrome: A Case Report.
- Published in:
- International Journal of Immunopathology & Pharmacology, 2004, v. 17, n. 3, p. 395, doi. 10.1177/039463200401700320
- By:
- Publication type:
- Article
Partial block of glycolysis in late-onset phosphofructokinase deficiency myopathy.
- Published in:
- Acta Neuropathologica, 1996, v. 91, n. 3, p. 322, doi. 10.1007/s004010050432
- By:
- Publication type:
- Article
Hypnic headache: actigraphic and polysomnographic study of a case.
- Published in:
- Cephalalgia, 2005, v. 25, n. 6, p. 466, doi. 10.1111/j.1468-2982.2005.00871.x
- By:
- Publication type:
- Article
An Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM) linked to chromosome 9p1.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Mitochondrial neuropathy: considerations on pathogenesis.
- Published in:
- European Journal of Neurology, 2016, v. 23, n. 8, p. e55, doi. 10.1111/ene.13049
- By:
- Publication type:
- Article
Peripheral neuropathy is a common manifestation of mitochondrial diseases: a single-centre experience.
- Published in:
- European Journal of Neurology, 2016, v. 23, n. 6, p. 1020, doi. 10.1111/ene.12954
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- Publication type:
- Article
Muscle MRI in female carriers of dystrophinopathy.
- Published in:
- European Journal of Neurology, 2012, v. 19, n. 9, p. 1256, doi. 10.1111/j.1468-1331.2012.03753.x
- By:
- Publication type:
- Article
MHC class I, MHC class II and intercellular adhesion molecule-1 (ICAM-1) expression in inflammatory myopathies.
- Published in:
- Clinical & Experimental Immunology, 1994, v. 95, n. 1, p. 166
- By:
- Publication type:
- Article
Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita.
- Published in:
- Human Mutation, 1998, v. 11, n. 4, p. 331, doi. 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU13>3.0.CO;2-0
- By:
- Publication type:
- Article
Recurrent kidney stones in a family with a mitochondrial disorder due to the m.3243A>G mutation.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Benign monomelic amyotrophy of lower limb: report of three cases.
- Published in:
- Acta Neurologica Scandinavica, 1992, v. 85, n. 6, p. 397, doi. 10.1111/j.1600-0404.1992.tb06035.x
- By:
- Publication type:
- Article
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 12, p. 6555, doi. 10.1007/s00415-022-11324-3
- By:
- Publication type:
- Article
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 3, p. 1413, doi. 10.1007/s00415-021-10697-1
- By:
- Publication type:
- Article
Revisiting mitochondrial ocular myopathies: a study from the Italian Network.
- Published in:
- Journal of Neurology, 2017, v. 264, n. 8, p. 1777, doi. 10.1007/s00415-017-8567-z
- By:
- Publication type:
- Article
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 5, p. 952, doi. 10.1007/s00415-011-6293-5
- By:
- Publication type:
- Article
Autosomal recessive hypermyelinating neuropathy.
- Published in:
- Acta Neuropathologica, 1994, v. 87, n. 4, p. 337, doi. 10.1007/BF00313601
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- Publication type:
- Article
Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings.
- Published in:
- Acta Neuropathologica, 1994, v. 87, n. 1, p. 106, doi. 10.1007/BF00386261
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- Publication type:
- Article
Giant axonal neuropathy: report on a case with focal fiber loss.
- Published in:
- Acta Neuropathologica, 1992, v. 83, n. 5, p. 543, doi. 10.1007/BF00310034
- By:
- Publication type:
- Article
Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.
- Published in:
- Acta Neuropathologica, 1991, v. 81, n. 6, p. 632, doi. 10.1007/BF00296373
- By:
- Publication type:
- Article
Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase.
- Published in:
- Acta Neuropathologica, 1987, v. 74, n. 3, p. 248, doi. 10.1007/BF00688189
- By:
- Publication type:
- Article
Infectivity of influenza B virus in cultured human muscle.
- Published in:
- Acta Neuropathologica, 1987, v. 73, n. 1, p. 67, doi. 10.1007/BF00695504
- By:
- Publication type:
- Article
Nutritional support in mitochondrial diseases: the state of the art.
- Published in:
- European Review for Medical & Pharmacological Sciences, 2018, v. 22, n. 13, p. 4288
- By:
- Publication type:
- Article
Functional involvement of cerebral cortex in Duchenne muscular dystrophy.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation).
- Published in:
- 1997
- By:
- Publication type:
- journal article
Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name.
- Published in:
- 1994
- By:
- Publication type:
- journal article