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X-Linked Developmental Defects of Myelination: From Mouse Mutants to Human Genetic Diseases.
- Published in:
- Neuroscientist, 1996, v. 2, n. 1, p. 33, doi. 10.1177/107385849600200111
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- Publication type:
- Article
Propensity for paternal inheritance of de novo mutations in Alexander disease.
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- Human Genetics, 2006, v. 119, n. 1/2, p. 137, doi. 10.1007/s00439-005-0116-7
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- Publication type:
- Article
Familial, Adult Onset Form of Leukoencephalopathy with Brain Stem and Spinal Cord Involvement: Inconstant High Brain Lactate and Very Slow Disease Progression.
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- European Neurology, 2007, v. 58, n. 1, p. 59, doi. 10.1159/000102171
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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
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
- Published in:
- 2018
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- Publication type:
- journal article
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
In vivo analysis of the post-natal development of normal mouse brain by DTI.
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- NMR in Biomedicine, 2007, v. 20, n. 4, p. 413, doi. 10.1002/nbm.1082
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- Article
Proton MRS of early post-natal mouse brain modifications in vivo.
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- NMR in Biomedicine, 2006, v. 19, n. 2, p. 180, doi. 10.1002/nbm.997
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- Article
Genes involved in leukodystrophies: A glance at glial functions.
- Published in:
- Current Neurology & Neuroscience Reports, 2008, v. 8, n. 3, p. 217, doi. 10.1007/s11910-008-0034-x
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- Publication type:
- Article
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.
- Published in:
- 2017
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- Publication type:
- journal article
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
- Published in:
- 2019
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- Publication type:
- journal article
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: identification of one partial triplication and two partial deletions of PLP1.
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- Neurogenetics, 2006, v. 7, n. 1, p. 31, doi. 10.1007/s10048-005-0021-1
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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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- Publication type:
- Article
Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.
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- European Journal of Human Genetics, 2004, v. 12, n. 7, p. 561, doi. 10.1038/sj.ejhg.5201189
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- Publication type:
- Article
Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations.
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- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 837
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- Publication type:
- 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
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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- 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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- 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
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
Institutionnalisation d'une fiche de limitation ou d'arrêt des traitements en pédiatrie: retour d'expérience de l'hôpital Robert Debré (Paris).
- Published in:
- Médecine Thérapeutique: Pédiatrie, 2022, v. 24, n. 1, p. 13, doi. 10.1684/mtp.2021.0738
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- Publication type:
- Article
Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure.
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- BMC Women's Health, 2004, v. 4, p. 1, doi. 10.1186/1472-6874-4-8
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- Publication type:
- Article
Detection of trisomy 21 by quantitative fluorescentpolymerase chain reaction in uncultured amniocytes.
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- Prenatal Diagnosis, 2003, v. 23, n. 4, p. 287, doi. 10.1002/pd.579
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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
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
Eukaryotic Initiation Factor 2B (eIF2B) GEF Activity as a Diagnostic Tool for EIF2B-Related Disorders.
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- PLoS ONE, 2009, v. 4, n. 12, p. e8318, doi. 10.1371/journal.pone.0008318
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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
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.
- Published in:
- Nature Genetics, 2001, v. 27, n. 1, p. 117, doi. 10.1038/83679
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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
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
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations.
- Published in:
- 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
Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.
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- Epilepsia (Series 4), 2008, v. 49, n. 5, p. 910, doi. 10.1111/j.1528-1167.2008.01542.x
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- Publication type:
- Article
A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report.
- Published in:
- 2015
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- Publication type:
- journal 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
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
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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- Publication type:
- 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.
- Published in:
- 2015
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- Publication type:
- Case Study
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. E500, doi. 10.1002/humu.20945
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- Publication type:
- Article
PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.
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- Human Mutation, 2008, v. 29, n. 8, p. 1028, doi. 10.1002/humu.20758
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- Publication type:
- Article
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1.
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- Human Mutation, 2006, v. 27, n. 3, p. 292, doi. 10.1002/humu.9407
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- Publication type:
- Article
Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic Paraplegia.
- Published in:
- Biomedicines, 2022, v. 10, n. 7, p. N.PAG, doi. 10.3390/biomedicines10071709
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- Publication type:
- Article
Enhancing fetal alcohol spectrum disorders diagnosis with a classifier based on the intracerebellar gradient of volumetric undersizing.
- Published in:
- Human Brain Mapping, 2023, v. 44, n. 11, p. 4321, doi. 10.1002/hbm.26348
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- Publication type:
- 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
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
Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 8, p. 2161, doi. 10.1093/brain/awp171
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- Publication type:
- Article