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High plasma creatine kinase: review of the literature and proposal for a diagnostic algorithm.
- Published in:
- Neurological Sciences, 2006, v. 27, n. 5, p. 303, doi. 10.1007/s10072-006-0701-0
- By:
- Publication type:
- Article
AN UNUSUAL ASSOCIATION: CELIAC DISEASE AND BECKER MUSCULAR DYSTROPHY.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 1996, v. 91, n. 7, p. 1459
- By:
- Publication type:
- Article
Correction: Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
- Published in:
- Nature Genetics, 2001, v. 29, n. 1, p. 100, doi. 10.1038/ng0901-100b
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- Publication type:
- Article
Effects of short‐to‐long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).
- Published in:
- Neuropathology & Applied Neurobiology, 2018, v. 44, n. 5, p. 449, doi. 10.1111/nan.12414
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- Publication type:
- Article
The neurotrophin receptor p75NTR is induced on mature myofibres in inflammatory myopathies and promotes myotube survival to inflammatory stress.
- Published in:
- Neuropathology & Applied Neurobiology, 2012, v. 38, n. 4, p. 367, doi. 10.1111/j.1365-2990.2011.01212.x
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- Publication type:
- Article
Concomitant deficiency of β- and γ-sarcoglycans in 20 α-sarcoglycan (adhalin)-deficient patients: immunohistochemical analysis and clinical aspects.
- Published in:
- Acta Neuropathologica, 1997, v. 94, n. 1, p. 28, doi. 10.1007/s004010050668
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- Publication type:
- Article
Dystrophin-associated protein abnormalities in dystrophin-deficient muscle fibers from symptomatic and asymptomatic Duchenne/Becker muscular dystrophy carriers.
- Published in:
- Acta Neuropathologica, 1996, v. 92, n. 4, p. 369, doi. 10.1007/s004010050532
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- Publication type:
- Article
Die Rolle des retikulo-endothelialen Systems für die eosinopenische Reaktion unter Gluco-Corticosteroiden.
- Published in:
- Acta Haematologica, 1954, v. 11, n. 1, p. 21, doi. 10.1159/000204531
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- Publication type:
- Article
Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy.
- Published in:
- 2004
- By:
- Publication type:
- Journal Article
Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK.
- Published in:
- 2013
- By:
- Publication type:
- Letter
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
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- Publication type:
- Article
Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 609, doi. 10.1023/B:BOLI.0000042980.45692.bb
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- Publication type:
- Article
Bone mineral density and bone metabolism in Duchenne muscular dystrophy.
- Published in:
- Osteoporosis International, 2003, v. 14, n. 9, p. 761, doi. 10.1007/s00198-003-1443-y
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- Publication type:
- Article
No evidence of cardiomyopathy in spinal and bulbar muscular atrophy.
- Published in:
- Acta Neurologica Scandinavica, 2013, v. 128, n. 6, p. e30, doi. 10.1111/ane.12140
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- Publication type:
- Article
Low bone density and bone metabolism alterations in Duchenne muscular dystrophy: response to calcium and vitamin D treatment.
- Published in:
- Osteoporosis International, 2011, v. 22, n. 2, p. 529, doi. 10.1007/s00198-010-1275-5
- By:
- Publication type:
- Article
ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.
- Published in:
- Journal of Physiology, 2015, v. 593, n. 18, p. 4181, doi. 10.1113/JP270358
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- Publication type:
- Article
Fibrinogen storage disease without hypofibrinogenaemia associated with acute infection.
- Published in:
- Histopathology, 2003, v. 42, n. 1, p. 22, doi. 10.1046/j.1365-2559.2003.01551.x
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- Publication type:
- Article
Evidence for Birch Bark Tar Use as an Adhesive and Decorative Element in Early Iron Age Central Italy: Technological and Socio‐Economic Implications.
- Published in:
- Archaeometry, 2018, v. 60, n. 5, p. 1077, doi. 10.1111/arcm.12362
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- Publication type:
- Article
Transcriptional behavior of DMD gene duplications in DMD/BMD males.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E310, doi. 10.1002/humu.20881
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- Publication type:
- Article
Integratión y cooperación regional en América Latina: una relectura a partir de la teoría de la autonomía.
- Published in:
- Estudios Internacionales, 2015, v. 47, n. 181, p. 135
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- Publication type:
- Article
Partial laminin alpha2 chain deficiency in a patient with myopathy resembling inclusion body myositis.
- Published in:
- 2000
- By:
- Publication type:
- journal article
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample.
- Published in:
- 1997
- By:
- Publication type:
- journal article
Clinical heterogeneity of adhalin deficiency.
- Published in:
- 1996
- By:
- Publication type:
- journal article
Dystrophin analysis in duchenne and becker muscular dystrophy carriers: Correlation with intracellular calcium and albumin.
- Published in:
- Annals of Neurology, 1990, v. 28, n. 5, p. 674, doi. 10.1002/ana.410280512
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- Publication type:
- Article
Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT).
- Published in:
- 2013
- By:
- Publication type:
- Abstract
A novel nonsense mutation in the human dystrophin gene.
- Published in:
- Human Mutation, 1993, v. 2, n. 4, p. 314, doi. 10.1002/humu.1380020413
- By:
- Publication type:
- Article
Atypical cutaneous mycobacteriosis diagnosed by polymerase chain reaction.
- Published in:
- British Journal of Dermatology, 2002, v. 147, n. 4, p. 781, doi. 10.1046/j.1365-2133.2002.04903.x
- By:
- Publication type:
- Article
A non-invasive procedure based on brush sampling and Bisulfite sequencing of a 13-gene panel to study high risk patients to develop oral cancer.
- Published in:
- Annals of Stomatology / Annali di Stomatologia, 2017, v. 8, p. 39
- By:
- Publication type:
- Article
Tumoral heterogeneity in oral squamous cell carcinoma and related adverse events: a study of 5 cases.
- Published in:
- Annals of Stomatology / Annali di Stomatologia, 2017, v. 8, p. 27
- By:
- Publication type:
- Article
Validation of a non invasive procedure based on Bisulfite sequencing of a 13-gene panel to early detect Oral Squamous Cell Carcinoma in brushing samples.
- Published in:
- Annals of Stomatology / Annali di Stomatologia, 2017, v. 8, p. 25
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- Publication type:
- Article
miRNA profiling expression from oral brushing in oscc patients and in patients surgically treated for oscc.
- Published in:
- Annals of Stomatology / Annali di Stomatologia, 2017, v. 8, p. 14
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- Publication type:
- Article
miRNA profiling expression from oral brushing in patients with potentially malignant disorders.
- Published in:
- Annals of Stomatology / Annali di Stomatologia, 2017, v. 8, p. 13
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- Publication type:
- Article
Oral brushing as a useful method to show aberrant methylation pattern in genes from adjacent and distant mucosa in OSCC patients.
- Published in:
- Annals of Stomatology / Annali di Stomatologia, 2015, v. 6, p. 32
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- Publication type:
- Article
Prognostic value of clonality analysis in patients with secondary oral squamous cell carcinoma.
- Published in:
- Annals of Stomatology / Annali di Stomatologia, 2015, v. 6, p. 27
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- Publication type:
- Article
Oral brushing as a useful method to study epigenetic alterations in oral mucosa from OSCC patients.
- Published in:
- Annals of Stomatology / Annali di Stomatologia, 2015, v. 6, p. 11
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- Publication type:
- Article
In situ polymerase chain reaction detection of transfusion-transmitted virus in liver biopsy.
- Published in:
- Journal of Viral Hepatitis, 2002, v. 9, n. 2, p. 123, doi. 10.1046/j.1365-2893.2002.00346.x
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- Publication type:
- Article
Correction to: Sequential analyses of bovid tooth enamel and dentine collagen (<sup>δ</sup>18O, <sup>δ</sup>13C, <sup>δ</sup>15N): new insights into animal husbandry between the Late Neolithic and the Early Bronze Age at Tana del Barletta (Ligurian Prealps)
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Sequential analyses of bovid tooth enamel and dentine collagen (δ<sup>18</sup>O, δ<sup>13</sup>C, δ<sup>15</sup>N): new insights into animal husbandry between the Late Neolithic and the Early Bronze Age at Tana del Barletta (Ligurian Prealps)
- Published in:
- Archaeological & Anthropological Sciences, 2021, v. 13, n. 9, p. 1, doi. 10.1007/s12520-021-01418-w
- By:
- Publication type:
- Article
Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies.
- Published in:
- 1994
- By:
- Publication type:
- journal article
Content of methylhistidines in normal and pathological human skeletal muscles.
- Published in:
- 1983
- By:
- Publication type:
- journal article