Found: 46
Select item for more details and to access through your institution.
Overview of Neuro-Ophthalmic Findings in Leukodystrophies.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 17, p. 5114, doi. 10.3390/jcm13175114
- By:
- Publication type:
- Article
Clinical and molecular genetic features of ARC syndrome.
- Published in:
- Human Genetics, 2006, v. 120, n. 3, p. 396, doi. 10.1007/s00439-006-0232-z
- By:
- Publication type:
- Article
DySMA – an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 473, doi. 10.3233/JND-230177
- By:
- Publication type:
- Article
Development of the "Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients.
- Published in:
- Journal of Child Neurology, 2021, v. 36, n. 8, p. 635, doi. 10.1177/0883073821989154
- By:
- Publication type:
- Article
INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms.
- Published in:
- Neurogenetics, 2023, v. 24, n. 2, p. 79, doi. 10.1007/s10048-023-00709-9
- By:
- Publication type:
- Article
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 263, doi. 10.1007/s10048-021-00655-4
- By:
- Publication type:
- Article
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay.
- Published in:
- Neurogenetics, 2018, v. 19, n. 3, p. 151, doi. 10.1007/s10048-018-0549-5
- By:
- Publication type:
- Article
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00900-3
- By:
- Publication type:
- Article
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00900-3
- By:
- Publication type:
- Article
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
- Published in:
- 2021
- By:
- Publication type:
- journal article
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia.
- Published in:
- Annals of Neurology, 2021, v. 90, n. 5, p. 738, doi. 10.1002/ana.26228
- By:
- Publication type:
- Article
The impact of long-term ventilator-use on health-related quality of life and the mental health of children with neuromuscular diseases and their families: need for a revised perspective?
- Published in:
- 2020
- By:
- Publication type:
- journal article
Evaluation of two family-based intervention programs for children affected by rare disease and their families – research network (CARE-FAM-NET): study protocol for a rater-blinded, randomized, controlled, multicenter trial in a 2x2 factorial design.
- Published in:
- BMC Family Practice, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12875-020-01312-9
- By:
- Publication type:
- Article
Correction to: Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease.
- Published in:
- 2019
- By:
- Publication type:
- Correction Notice
Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease.
- Published in:
- Acta Neuropathologica, 2019, v. 138, n. 1, p. 147, doi. 10.1007/s00401-019-01985-2
- By:
- Publication type:
- Article
Corrigendum: Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
- Published in:
- 2011
- By:
- Publication type:
- Correction notice
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
- Published in:
- Nature Genetics, 2010, v. 42, n. 4, p. 303, doi. 10.1038/ng.538
- By:
- Publication type:
- Article
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
- Published in:
- Nature Genetics, 2009, v. 41, n. 8, p. 936, doi. 10.1038/ng.405
- By:
- Publication type:
- Article
Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization.
- Published in:
- Nephrology Dialysis Transplantation, 2011, v. 26, n. 1, p. 136, doi. 10.1093/ndt/gfq400
- By:
- Publication type:
- Article
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 6, p. 766, doi. 10.1111/cge.14061
- By:
- Publication type:
- Article
Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy.
- Published in:
- International Journal of Environmental Research & Public Health, 2023, v. 20, n. 7, p. 5360, doi. 10.3390/ijerph20075360
- By:
- Publication type:
- Article
Germline AGO2 mutations impair RNA interference and human neurological development.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19572-5
- By:
- Publication type:
- Article
Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness.
- Published in:
- Deutsches Ärzteblatt International, 2019, v. 116, n. 12, p. 197, doi. 10.3238/arztebl.2019.0197
- By:
- Publication type:
- Article
Glycoproteomics of N-glycosylation by in-gel deglycosylation and matrix-assisted laser desorption/ionisation-time of flight mass spectrometry mapping: Application to congenital disorders of glycosylation.
- Published in:
- Proteomics, 2005, v. 5, n. 10, p. 2689, doi. 10.1002/pmic.200401312
- By:
- Publication type:
- Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
- Published in:
- Human Genetics, 2022, v. 141, n. 2, p. 257, doi. 10.1007/s00439-021-02412-x
- By:
- Publication type:
- Article
Psychosozialer Unterstützungsbedarf von Eltern mit schwer chronisch somatisch erkrankten Kindern.
- Published in:
- Praxis der Kinderpsychologie und Kinderpsychiatrie, 2017, v. 66, n. 9, p. 687, doi. 10.13109/prkk.2017.66.9.687
- By:
- Publication type:
- Article
Phenotypic and molecular insights into CASK-related disorders in males.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0256-3
- By:
- Publication type:
- Article
Phenotypic and molecular insights into CASK-related disorders in males.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 44, doi. 10.1186/s13023-015-0256-3
- By:
- Publication type:
- Article
Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS).
- Published in:
- Glycoconjugate Journal, 2008, v. 25, n. 4, p. 375, doi. 10.1007/s10719-007-9089-1
- By:
- Publication type:
- Article
Lessons learned from additional research analyses of unsolved clinical exome cases.
- Published in:
- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0412-6
- By:
- Publication type:
- Article
Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.
- Published in:
- Neonatology (16617800), 2021, v. 118, n. 4, p. 454, doi. 10.1159/000516890
- By:
- Publication type:
- Article
A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.
- Published in:
- Human Mutation, 2006, v. 27, n. 6, p. 524, doi. 10.1002/humu.20315
- By:
- Publication type:
- Article
An activated 5′ cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id).
- Published in:
- Human Mutation, 2004, v. 23, n. 5, p. 477, doi. 10.1002/humu.20026
- By:
- Publication type:
- Article
Quality of Life and Mental Health in Mothers and Fathers Caring for Children and Adolescents with Rare Diseases Requiring Long-Term Mechanical Ventilation.
- Published in:
- International Journal of Environmental Research & Public Health, 2020, v. 17, n. 23, p. 8975, doi. 10.3390/ijerph17238975
- By:
- Publication type:
- Article
Health-Related Quality of Life and mental health of families with children and adolescents affected by rare diseases and high disease burden: the perspective of affected children and their siblings.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine‐rich N‐terminus.
- Published in:
- Human Mutation, 2019, v. 40, n. 7, p. 938, doi. 10.1002/humu.23764
- By:
- Publication type:
- Article
Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2023, v. 280, n. 3, p. 1329, doi. 10.1007/s00405-022-07685-0
- By:
- Publication type:
- Article
CNS Manifestations in Mucolipidosis Type II—A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 12, p. 4114, doi. 10.3390/jcm12124114
- By:
- Publication type:
- Article
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1021, doi. 10.1002/ajmg.a.61515
- By:
- Publication type:
- Article
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3098, doi. 10.1002/ajmg.a.38406
- By:
- Publication type:
- Article
The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen.
- Published in:
- Journal of Cellular & Molecular Medicine, 2021, v. 25, n. 17, p. 8419, doi. 10.1111/jcmm.16802
- By:
- Publication type:
- Article
Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuria.
- Published in:
- 2001
- By:
- Publication type:
- journal article
The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
- Published in:
- Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-020-01659-3
- By:
- Publication type:
- Article