Found: 24
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Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis.
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- Neurological Sciences, 2011, v. 32, n. 3, p. 473, doi. 10.1007/s10072-010-0467-2
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- Article
Introduction.
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- Neurological Sciences, 2000, v. 21, p. S13, doi. 10.1007/s100720070034
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- Publication type:
- Article
Neuronal ceroid lipofuscinoses: detection of atypical forms.
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- Neurological Sciences, 2000, v. 21, p. S57, doi. 10.1007/s100720070041
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- Publication type:
- Article
A pathophysiological study of neuronal ceroid lipofuscinoses in 17 patients: critical review and methodological proposal.
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- Neurological Sciences, 2000, v. 21, p. S89, doi. 10.1007/s100720070046
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- Publication type:
- Article
Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration.
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- European Journal of Neurology, 2016, v. 23, n. 4, p. e24, doi. 10.1111/ene.12927
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- Article
Pallidal stimulation for acquired dystonia due to cerebral palsy: beyond 5 years.
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- European Journal of Neurology, 2015, v. 22, n. 3, p. 426, doi. 10.1111/ene.12596
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- Article
Response to letter by Dr Neil Murray.
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- European Journal of Neurology, 2011, v. 18, n. 6, p. e62, doi. 10.1111/j.1468-1331.2010.03346.x
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- Article
EFNS guidelines on diagnosis and treatment of primary dystonias.
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- European Journal of Neurology, 2011, v. 18, n. 1, p. 5, doi. 10.1111/j.1468-1331.2010.03042.x
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- Publication type:
- Article
Complex tics, stereotypies, and compulsive behavior as clinical presentation of a juvenile progressive dystonia suggestive of hallervorden-spatz disease.
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- Movement Disorders, 1994, v. 9, n. 3, p. 369, doi. 10.1002/mds.870090322
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- Publication type:
- Article
Hemidystonia symptomatic of primary antiphospholipid syndrome in childhood.
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- Movement Disorders, 1993, v. 8, n. 3, p. 383, doi. 10.1002/mds.870080327
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- Publication type:
- Article
Subacute Cervical Myelopathy in a Child with Cerebral Palsy.
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- Pediatric Neurosurgery, 1982, v. 9, n. 5, p. 354, doi. 10.1159/000120072
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- Publication type:
- Article
Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases.
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- Acta Neurologica Scandinavica, 1993, v. 87, n. 3, p. 219, doi. 10.1111/j.1600-0404.1993.tb04105.x
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- Article
Typical and atypical forms of paroxysmal choreoathetosis.
- Published in:
- 1989
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- Publication type:
- journal article
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.
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- 2006
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- Publication type:
- Journal Article
Extragenetic factors and clinical penetrance of DYT1 dystonia: an exploratory study.
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- 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.
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- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 4, p. 455, doi. 10.1023/B:BOLI.0000037349.08483.96
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- Article
Long‐term educational program to limit the burden of neurological disorders in Sub‐Saharan Africa: report from an Italy−Mozambique cooperation on epilepsy in children.
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- 2018
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- Letter to the Editor
Globus pallidus internus activity during simultaneous bilateral microelectrode recordings in status dystonicus.
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- Acta Neurochirurgica, 2021, v. 163, n. 1, p. 211, doi. 10.1007/s00701-020-04618-w
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- Publication type:
- Article
EFNS nuorodos apie pirminių distonijų diagnostiką ir gydymą.
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- Neurologijos Seminarai, 2011, v. 15, n. 2, p. 142
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- Publication type:
- Article
Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.
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- 1999
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- Publication type:
- journal article
R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome.
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- Neurogenetics, 2018, v. 19, n. 3, p. 179, doi. 10.1007/s10048-018-0552-x
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- Article
Mutation screening of the DYT6/THAP1 gene in Italy.
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- 2009
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- Publication type:
- Journal Article
A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.
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- 2008
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- Publication type:
- Journal Article
Life-threatening dystonia-dyskinesias in a child: successful treatment with bilateral pallidal stimulation.
- Published in:
- 2000
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- Publication type:
- journal article