Found: 29
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Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 96, doi. 10.1186/1750-1172-7-96
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- Publication type:
- Article
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 36, doi. 10.1186/1750-1172-7-36
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- Publication type:
- Article
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.
- Published in:
- 2019
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- Publication type:
- journal article
Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 12985, doi. 10.3390/ijms222312985
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- Publication type:
- Article
Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report.
- Published in:
- 2016
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- Publication type:
- journal article
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1537, doi. 10.1002/ajmg.a.36471
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- Publication type:
- Article
Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy.
- Published in:
- Pediatric Pulmonology, 2017, v. 52, n. 4, p. 508, doi. 10.1002/ppul.23547
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- Publication type:
- Article
The lung is involved in juvenile dermatomyositis.
- Published in:
- Pediatric Pulmonology, 2013, v. 48, n. 10, p. 1016, doi. 10.1002/ppul.22742
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- Publication type:
- Article
Upper Limb Evaluation and One-Year Follow Up of Non-Ambulant Patients with Spinal Muscular Atrophy: An Observational Multicenter Trial.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0121799
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- Publication type:
- Article
Upper Limb Strength and Function Changes during a One-Year Follow-Up in Non-Ambulant Patients with Duchenne Muscular Dystrophy: An Observational Multicenter Trial.
- Published in:
- PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0113999
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- Publication type:
- Article
Lack of Functional Benefit with Glutamine versus Placebo in Duchenne Muscular Dystrophy: A Randomized Crossover Trial.
- Published in:
- PLoS ONE, 2009, v. 4, n. 5, p. 1, doi. 10.1371/journal.pone.0005448
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- Publication type:
- Article
Insights into genotype-phenotype correlations in spinal muscular atrophy: A retrospective study of 103 patients.
- Published in:
- Muscle & Nerve, 2011, v. 43, n. 1, p. 26, doi. 10.1002/mus.21832
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- Publication type:
- Article
Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1.
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 10, p. 905, doi. 10.1111/j.1469-8749.2012.04379.x
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- Publication type:
- Article
Guillain-Barré Syndrome, Influenzalike Illnesses, and Influenza Vaccination During Seasons With and Without Circulating A/H1N1 Viruses.
- Published in:
- 2011
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- Publication type:
- Journal Article
Guillain-Barré Syndrome, Influenzalike Illnesses, and Influenza Vaccination During Seasons With and Without Circulating A/H1N1 Viruses.
- Published in:
- American Journal of Epidemiology, 2011, v. 174, n. 3, p. 326
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- Publication type:
- Article
ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.
- Published in:
- Nature Communications, 2016, v. 7, n. 5, p. 11534, doi. 10.1038/ncomms11534
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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
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
- Published in:
- 2017
- By:
- Publication type:
- journal article
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
- Published in:
- Annals of Neurology, 2008, v. 64, n. 2, p. 177, doi. 10.1002/ana.21417
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- Publication type:
- Article
Muscle Activation during Gait in Children with Duchenne Muscular Dystrophy.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0161938
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- Publication type:
- Article
The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD.
- Published in:
- Biomedicines, 2021, v. 9, n. 2, p. 219, doi. 10.3390/biomedicines9020219
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- Publication type:
- Article
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
- Published in:
- Human Mutation, 2020, v. 41, n. 1, p. 17, doi. 10.1002/humu.23899
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- Publication type:
- Article
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 20, p. 3779, doi. 10.1093/hmg/ddp320
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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
Efficacy and Tolerance of Gastrostomy Feeding in Pediatric Forms of Neuromuscular Diseases.
- Published in:
- JPEN Journal of Parenteral & Enteral Nutrition, 2002, v. 26, n. 5, p. 298, doi. 10.1177/0148607102026005298
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- Publication type:
- Article
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.
- Published in:
- Neurogenetics, 2020, v. 21, n. 1, p. 29, doi. 10.1007/s10048-019-00596-z
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- Publication type:
- Article
New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes.
- Published in:
- Movement Disorders, 2006, v. 21, n. 12, p. 2237, doi. 10.1002/mds.21135
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- Publication type:
- Article
French General Practitioners' Management of Children's Migraine Headaches.
- Published in:
- Headache: The Journal of Head & Face Pain, 2007, v. 47, n. 9, p. 1282, doi. 10.1111/j.1526-4610.2006.00720.x
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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