Found: 21
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Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPAgene in Italian families.
- Published in:
- Neurological Sciences, 2004, v. 25, n. 3, p. 130, doi. 10.1007/s10072-004-0246-z
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- Publication type:
- Article
A nanomedicine to treat ocular surface inflammation: performance on an experimental dry eye murine model.
- Published in:
- Gene Therapy, 2013, v. 20, n. 5, p. 467, doi. 10.1038/gt.2012.56
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- Publication type:
- Article
Accuracy of transcranial brain parenchyma sonography in the diagnosis of dementia with Lewy bodies.
- Published in:
- European Journal of Neurology, 2016, v. 23, n. 8, p. 1322, doi. 10.1111/ene.13028
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- Publication type:
- Article
Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration.
- Published in:
- European Journal of Neurology, 2016, v. 23, n. 4, p. e24, doi. 10.1111/ene.12927
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- Publication type:
- Article
Pallidal stimulation for acquired dystonia due to cerebral palsy: beyond 5 years.
- Published in:
- European Journal of Neurology, 2015, v. 22, n. 3, p. 426, doi. 10.1111/ene.12596
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- Publication type:
- Article
Synchronous nonfunctional duodenal carcinoid and high risk gastrointestinal stromal tumour (GIST) of the stomach.
- Published in:
- 2011
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- Publication type:
- Case Study
Early Neuroimaging Markers in β Propeller Protein-Associated Neurodegeneration.
- Published in:
- American Journal of Neuroradiology, 2022, v. 43, n. 12, p. 1815, doi. 10.3174/ajnr.A7723
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- Publication type:
- Article
Acordando de um sono de cem anos: uma nova espécie de Nothoscordum (Amaryllidaceae, Allioideae) da Floresta Atlântica brasileira.
- Published in:
- Boletín de la Sociedad Argentina de Botánica, 2023, v. 58, n. 3, p. 439, doi. 10.31055/1851.2372.v58.n3.40225
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- Publication type:
- Article
Case report: SLC6A1 mutations presenting with isolated absence seizures: description of 2 novel cases.
- Published in:
- Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1219244
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- Publication type:
- Article
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.
- Published in:
- 2006
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- Publication type:
- Journal Article
Extragenetic factors and clinical penetrance of DYT1 dystonia: an exploratory study.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 4, p. 1081, doi. 10.1007/s00415-012-6765-2
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- Publication type:
- Article
GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 4, p. 455, doi. 10.1023/B:BOLI.0000037349.08483.96
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- Publication type:
- Article
Long‐term use of methotrexate in Papuloerythroderma of Ofuji.
- Published in:
- Dermatologic Therapy, 2020, v. 33, n. 2, p. 1, doi. 10.1111/dth.13219
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- Publication type:
- Article
Globus pallidus internus activity during simultaneous bilateral microelectrode recordings in status dystonicus.
- Published in:
- Acta Neurochirurgica, 2021, v. 163, n. 1, p. 211, doi. 10.1007/s00701-020-04618-w
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- Publication type:
- Article
Erratum to: Precise measurement of Γ( K→ e ν( γ))/Γ( K→ μ ν( γ)) and study of K→ e ν γ.
- Published in:
- 2010
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- Publication type:
- Correction Notice
Precise measurement of Γ( K→ e ν( γ))/Γ( K→ μ ν( γ)) and study of K→ e ν γ.
- Published in:
- European Physical Journal C -- Particles & Fields, 2009, v. 64, n. 4, p. 627, doi. 10.1140/epjc/s10052-009-1177-x
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- Publication type:
- Article
An unusual case of extra-abdominal desmoid tumour.
- Published in:
- European Journal of Cancer Care, 2010, v. 19, n. 3, p. 410, doi. 10.1111/j.1365-2354.2008.01002.x
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- Publication type:
- Article
R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome.
- Published in:
- Neurogenetics, 2018, v. 19, n. 3, p. 179, doi. 10.1007/s10048-018-0552-x
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- Publication type:
- Article
Mutation screening of the DYT6/THAP1 gene in Italy.
- Published in:
- 2009
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- Publication type:
- Journal Article
A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.
- Published in:
- 2008
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- Publication type:
- Journal Article
Bilateral striatal necrosis associated with Mycoplasma pneumoniae infection in an adolescent: clinical and neuroradiologic follow up.
- Published in:
- 2000
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- Publication type:
- journal article