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Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study.
- Published in:
- Movement Disorders, 2024, v. 39, n. 8, p. 1386, doi. 10.1002/mds.29822
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- Publication type:
- Article
Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome.
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- Clinical Genetics, 2024, v. 106, n. 1, p. 90, doi. 10.1111/cge.14515
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- Publication type:
- Article
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 555, doi. 10.1111/cge.14485
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- Article
Developmental coordination disorder subtypes in children: An unsupervised clustering.
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- Developmental Medicine & Child Neurology, 2023, v. 65, n. 10, p. 1332, doi. 10.1111/dmcn.15563
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- Publication type:
- Article
Childhood cerebral adrenoleukodystrophy (CCALD) in France: epidemiology, natural history, and burden of disease - A population-based study.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02843-x
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- Publication type:
- Article
Enhancing fetal alcohol spectrum disorders diagnosis with a classifier based on the intracerebellar gradient of volumetric undersizing.
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- Human Brain Mapping, 2023, v. 44, n. 11, p. 4321, doi. 10.1002/hbm.26348
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- Publication type:
- Article
Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo‐controlled, dose‐finding trial followed by 24 months of treatment.
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- European Journal of Neurology, 2023, v. 30, n. 7, p. 1945, doi. 10.1111/ene.15499
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- Publication type:
- Article
Combining neuroanatomical features to support diagnosis of fetal alcohol spectrum disorders.
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- Developmental Medicine & Child Neurology, 2023, v. 65, n. 4, p. 551, doi. 10.1111/dmcn.15411
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- Publication type:
- Article
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.
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- 2022
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- Publication type:
- Case Study
Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic Paraplegia.
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- Biomedicines, 2022, v. 10, n. 7, p. N.PAG, doi. 10.3390/biomedicines10071709
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- Article
Evaluation of CSF1R‐related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria.
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- European Journal of Neurology, 2022, v. 29, n. 1, p. 329, doi. 10.1111/ene.15115
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- Publication type:
- Article
Institutionnalisation d'une fiche de limitation ou d'arrêt des traitements en pédiatrie: retour d'expérience de l'hôpital Robert Debré (Paris).
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- Médecine Thérapeutique: Pédiatrie, 2022, v. 24, n. 1, p. 13, doi. 10.1684/mtp.2021.0738
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- Publication type:
- Article
Opsoclonus‐myoclonus in Aicardi‐Goutières syndrome.
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- Developmental Medicine & Child Neurology, 2021, v. 63, n. 12, p. 1483, doi. 10.1111/dmcn.14969
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- Publication type:
- Article
Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies.
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- Journal of Clinical Immunology, 2021, v. 41, n. 3, p. 603, doi. 10.1007/s10875-020-00952-x
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- Publication type:
- Article
Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00929-2
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- Article
Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function.
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- Human Mutation, 2020, v. 41, n. 4, p. 837, doi. 10.1002/humu.23975
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- Publication type:
- Article
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.
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- Developmental Medicine & Child Neurology, 2019, v. 61, n. 12, p. 1439, doi. 10.1111/dmcn.14332
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- Publication type:
- Article
Novel POLR1C mutation in RNA polymerase III‐related leukodystrophy with severe myoclonus and dystonia.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.914
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- Publication type:
- Article
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.839
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- Publication type:
- Article
Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome.
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- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0092-9
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- Publication type:
- Article
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
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- 2019
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- Publication type:
- journal article
KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins.
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- Tremor & Other Hyperkinetic Movements, 2019, p. 1, doi. 10.7916/tohm.v0.641
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- Publication type:
- Article
Brain Diffusion Imaging and Tractography to Distinguish Clinical Severity of Human PLP1-Related Disorders.
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- Developmental Neuroscience, 2018, v. 40, n. 4, p. 301, doi. 10.1159/000492218
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- Publication type:
- Article
Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus‐Merzbacher disease.
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- Brain Pathology, 2018, v. 28, n. 5, p. 611, doi. 10.1111/bpa.12571
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- Article
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
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- 2018
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- Publication type:
- journal article
Mutation in the AGK gene in two siblings with unusual Sengers syndrome.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 6, p. 2149, doi. 10.1007/s11011-017-0101-6
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- Publication type:
- Article
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.
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- 2017
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- Publication type:
- journal article
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.
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- 2017
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- Publication type:
- journal article
Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disorders.
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- 2016
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- Publication type:
- journal article
Atypical clinical and radiological course of a patient with Canavan disease.
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- Metabolic Brain Disease, 2016, v. 31, n. 2, p. 475, doi. 10.1007/s11011-015-9767-9
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- Publication type:
- Article
Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population.
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- 2016
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- Publication type:
- journal article
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 116, doi. 10.1002/ajmg.a.37384
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- Publication type:
- Article
A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report.
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- 2015
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- Publication type:
- journal article
Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
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- 2015
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- Publication type:
- Case Study
New spastic paraplegia phenotype associated to mutation of NFU1.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0237-6
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- Publication type:
- Article
Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 174, doi. 10.1186/s13023-014-0174-9
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- Publication type:
- Article
Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.
- Published in:
- 2014
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- Publication type:
- journal article
Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16 A2/ MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation.
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- Human Mutation, 2013, v. 34, n. 7, p. 1018, doi. 10.1002/humu.22331
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- Publication type:
- Article
Clinical and Radiological Characteristics in Multiple Sclerosis Patients with Large Cavitary Lesions.
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- European Neurology, 2012, v. 68, n. 3, p. 156, doi. 10.1159/000338476
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- Publication type:
- Article
CSF N-Glycan Profiles to Investigate Biomarkers in Brain Developmental Disorders: Application to Leukodystrophies Related to eIF2B Mutations.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042688
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- Publication type:
- Article
Developmental Splicing Deregulation in Leukodystrophies Related to EIF2B Mutations.
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- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0038264
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- Publication type:
- Article
Relevance of SOX17 Variants for Hypomyelinating Leukodystrophies and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT).
- Published in:
- Annals of Human Genetics, 2012, v. 76, n. 3, p. 261, doi. 10.1111/j.1469-1809.2011.00702.x
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- Article
Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis.
- Published in:
- 2012
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- Publication type:
- Letter
Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease.
- Published in:
- Annals of Neurology, 2012, v. 71, n. 1, p. 146, doi. 10.1002/ana.22295
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- Publication type:
- Article
Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations.
- Published in:
- 2011
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- Publication type:
- Letter
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.
- Published in:
- Neurogenetics, 2011, v. 12, n. 1, p. 73, doi. 10.1007/s10048-010-0256-3
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- Publication type:
- Article
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations.
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- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 40, doi. 10.1186/1750-1172-6-40
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- Publication type:
- Article
4H syndrome: a rare cause of leukodystrophy.
- Published in:
- 2010
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- Publication type:
- Letter
Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients.
- Published in:
- BMC Neurology, 2010, v. 10, p. 94, doi. 10.1186/1471-2377-10-94
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- Publication type:
- Article
Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients.
- Published in:
- 2010
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- Publication type:
- journal article