Found: 14
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Spinale Muskelatrophie.
- Published in:
- Der Nervenarzt, 2022, v. 93, n. 2, p. 191, doi. 10.1007/s00115-021-01256-0
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- Publication type:
- Article
Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101: Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e. V
- Published in:
- Der Nervenarzt, 2020, v. 91, n. 6, p. 518, doi. 10.1007/s00115-020-00919-8
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- Publication type:
- Article
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 2, p. 668, doi. 10.1093/brain/awac252
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- Publication type:
- Article
Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel–Giedion syndrome.
- Published in:
- Acta Neuropathologica, 2007, v. 113, n. 3, p. 339, doi. 10.1007/s00401-006-0179-0
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- Publication type:
- Article
Normative Observational Nerve Ultrasound Values in School-Age Children and Adolescents and Their Application to Hereditary Neuropathies.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00303
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- Publication type:
- Article
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 5, p. 2787, doi. 10.1007/s00415-024-12188-5
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- Publication type:
- Article
Letter to the Editor.
- Published in:
- 2007
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- Publication type:
- Letter
The role of magnetic resonance imaging in elucidating the pathogenesis of cerebral palsy: a systematic review.
- Published in:
- Developmental Medicine & Child Neurology, 2007, v. 49, n. 2, p. 144, doi. 10.1111/j.1469-8749.2007.00144.x
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- Publication type:
- Article
MRI classification system (MRICS) for children with cerebral palsy: development, reliability, and recommendations.
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- 2017
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- Publication type:
- journal article
Interrater reliability study of cerebral palsy diagnosis, neurological subtype, and gross motor function.
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 9, p. 815, doi. 10.1111/j.1469-8749.2012.04359.x
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- Publication type:
- Article
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2272, doi. 10.1002/ajmg.a.61765
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- Publication type:
- Article
Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2587, doi. 10.1002/ajmg.a.35562
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- Publication type:
- Article
The Role of Neuroimaging and Genetic Analysis in the Diagnosis of Children With Cerebral Palsy.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.628075
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- Publication type:
- Article
Neuroimaging Patterns and Function in Cerebral Palsy—Application of an MRI Classification.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.617740
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- Publication type:
- Article