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Correction to: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 1, p. 329, doi. 10.1007/s10072-022-06403-2
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- Publication type:
- Article
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.
- Published in:
- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01254-y
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- Publication type:
- Article
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
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- Epilepsia (Series 4), 2015, v. 56, n. 12, p. 1931, doi. 10.1111/epi.13214
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- Publication type:
- Article
Children often present with infantile spasms after herpetic encephalitis.
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- Epilepsia (Series 4), 2013, v. 54, n. 9, p. 1571, doi. 10.1111/epi.12258
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- Publication type:
- Article
Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 12985, doi. 10.3390/ijms222312985
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- Publication type:
- Article
First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 21, p. 5345, doi. 10.3390/ijms20215345
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- Publication type:
- Article
Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1061, doi. 10.1002/ajmg.a.38108
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- Publication type:
- Article
Expériences et réflexions chez l'enfant: De l'AMM à l'utilisation d'un traitement innovant : quel parcours ! (1).
- Published in:
- Médecine Sciences, 2019, v. 35, p. 32, doi. 10.1051/medsci/2019023
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- Publication type:
- Article
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
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- Nature Genetics, 2014, v. 46, n. 6, p. 640, doi. 10.1038/ng.2952
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- Publication type:
- Article
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
- Published in:
- Nature Genetics, 2013, v. 45, n. 8, p. 962, doi. 10.1038/ng0813-962b
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- Publication type:
- Article
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
- Published in:
- Nature Genetics, 2013, v. 45, n. 6, p. 639, doi. 10.1038/ng.2613
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- Publication type:
- Article
Prognostic factors for the sequelae and severity of Guillain-Barré syndrome in children.
- Published in:
- 2019
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- Publication type:
- journal article
Insights into genotype-phenotype correlations in spinal muscular atrophy: A retrospective study of 103 patients.
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- Muscle & Nerve, 2011, v. 43, n. 1, p. 26, doi. 10.1002/mus.21832
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- Publication type:
- Article
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02804-4
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- Publication type:
- Article
Phosphatidylserine enriched with polyunsaturated n‐3 fatty acid supplementation for attention‐deficit hyperactivity disorder in children and adolescents with epilepsy: A randomized placebo‐controlled trial.
- Published in:
- Epilepsia Open, 2024, v. 9, n. 2, p. 582, doi. 10.1002/epi4.12892
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- Publication type:
- Article
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study.
- Published in:
- 2022
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- Publication type:
- journal article
Key clinical features to identify girls with CDKL5 mutations.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 10, p. 2647, doi. 10.1093/brain/awn197
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- Publication type:
- Article
ADHD in childhood epilepsy: Clinical determinants of severity and of the response to methylphenidate.
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- Epilepsia (Series 4), 2016, v. 57, n. 7, p. 1069, doi. 10.1111/epi.13420
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- Publication type:
- Article
Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France.
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- Epilepsia (Series 4), 2016, v. 57, n. 5, p. 757, doi. 10.1111/epi.13368
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- Publication type:
- Article
Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 2, p. 359, doi. 10.1002/acn3.51281
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- Publication type:
- Article
Effect of desipramine on patients with breathing disorders in RETT syndrome.
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- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 2, p. 118, doi. 10.1002/acn3.468
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- Publication type:
- Article
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.
- Published in:
- 2020
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- Publication type:
- journal article
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
- Published in:
- Annals of Neurology, 2007, v. 62, n. 6, p. 666, doi. 10.1002/ana.21235
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- Publication type:
- Article
Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen.
- Published in:
- 2020
- By:
- Publication type:
- journal article
French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).
- Published in:
- Journal of Neurology, 2024, v. 271, n. 9, p. 5778, doi. 10.1007/s00415-024-12538-3
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- Publication type:
- Article
Diagnosis and management of Becker muscular dystrophy: the French guidelines.
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- Journal of Neurology, 2023, v. 270, n. 10, p. 4763, doi. 10.1007/s00415-023-11837-5
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- Publication type:
- Article
Slow Titration of Cannabidiol Add-On in Drug-Resistant Epilepsies Can Improve Safety With Maintained Efficacy in an Open-Label Study.
- Published in:
- Frontiers in Neurology, 2020, p. N.PAG, doi. 10.3389/fneur.2020.00829
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- Publication type:
- Article
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
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- European Journal of Neurology, 2022, v. 29, n. 11, p. 3229, doi. 10.1111/ene.15515
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- Publication type:
- Article
Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome.
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- European Journal of Neurology, 2022, v. 29, n. 8, p. 2398, doi. 10.1111/ene.15369
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- Publication type:
- Article
The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability.
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- Biomedicines, 2024, v. 12, n. 2, p. 322, doi. 10.3390/biomedicines12020322
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- Publication type:
- Article
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
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- Genes, 2021, v. 12, n. 8, p. 1199, doi. 10.3390/genes12081199
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- Publication type:
- Article
Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study.
- Published in:
- PLoS ONE, 2018, v. 13, n. 7, p. 1, doi. 10.1371/journal.pone.0201004
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- Publication type:
- Article
Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQL<sup>TM</sup>3.0DMDfv).
- Published in:
- BMC Pediatrics, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12887-023-04153-4
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- Publication type:
- Article