Found: 61
Select item for more details and to access through your institution.
Deep brain stimulation treated dystonia-trajectory via status dystonicus.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.
- Published in:
- 2016
- By:
- Publication type:
- letter
Acute-onset chorea, dystonia, and cardiac fibroelastoma in a child: A paraneoplastic association?
- Published in:
- Movement Disorders, 2013, v. 28, n. 2, p. 250, doi. 10.1002/mds.25274
- By:
- Publication type:
- Article
Status dystonicus: Predictors of outcome and progression patterns of underlying disease.
- Published in:
- Movement Disorders, 2012, v. 27, n. 6, p. 783, doi. 10.1002/mds.24981
- By:
- Publication type:
- Article
Singular DYT6 phenotypes in association with new THAP1 frameshift mutations.
- Published in:
- Movement Disorders, 2011, v. 26, n. 9, p. 1774, doi. 10.1002/mds.23641
- By:
- Publication type:
- Article
Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders.
- Published in:
- Movement Disorders, 2010, v. 25, n. 11, p. 1605, doi. 10.1002/mds.23134
- By:
- Publication type:
- Article
Developmental and benign movement disorders in childhood.
- Published in:
- Movement Disorders, 2010, v. 25, n. 10, p. 1317, doi. 10.1002/mds.22944
- By:
- Publication type:
- Article
Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients.
- Published in:
- Movement Disorders, 2008, v. 23, n. 16, p. 2392, doi. 10.1002/mds.22313
- By:
- Publication type:
- Article
Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4462, doi. 10.1093/hmg/ddq377
- By:
- Publication type:
- Article
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
- Published in:
- 2021
- By:
- Publication type:
- journal article
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Postnatal outcome of children with antenatal colonic hyperechogenicity.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 1, p. 28, doi. 10.1002/pd.6475
- By:
- Publication type:
- Article
Non‐Motor Symptoms and Quality of Life in Patients with PRRT2‐Related Paroxysmal Kinesigenic Dyskinesia.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 7, p. 1082, doi. 10.1002/mdc3.13795
- By:
- Publication type:
- Article
Pregnancy in MNGIE: a clinical and metabolic honeymoon.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 12, p. 2484, doi. 10.1002/acn3.51202
- By:
- Publication type:
- Article
FGF14‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 565, doi. 10.1002/acn3.51005
- By:
- Publication type:
- Article
Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1572, doi. 10.1002/acn3.50860
- By:
- Publication type:
- Article
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
- Published in:
- Frontiers in Genetics, 2015, v. 6, p. 1, doi. 10.3389/fgene.2015.00311
- By:
- Publication type:
- Article
SPACR Encoded by IMPG1 Is Essential for Photoreceptor Survival by Interplaying between the Interphotoreceptor Matrix and the Retinal Pigment Epithelium.
- Published in:
- Genes, 2022, v. 13, n. 9, p. 1508, doi. 10.3390/genes13091508
- By:
- Publication type:
- Article
Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease.
- Published in:
- EMBO Molecular Medicine, 2021, v. 13, n. 9, p. 1, doi. 10.15252/emmm.202114712
- By:
- Publication type:
- Article
Perfusion-weighted MR imaging in persistent hemiplegic migraine.
- Published in:
- Neuroradiology, 2012, v. 54, n. 3, p. 255, doi. 10.1007/s00234-011-0946-z
- By:
- Publication type:
- Article
Clinical and Electrophysiological Characterization of Essential Tremor in 18 Children and Adolescents.
- Published in:
- Tremor & Other Hyperkinetic Movements, 2023, v. 13, p. 1, doi. 10.5334/tohm.803
- By:
- Publication type:
- Article
Epilepsie réfractaire et hyperlactacidémie chez un nourrisson : la maladie de Menkès, un diagnostic à envisager. A propos d'un cas.
- Published in:
- Annales de Biologie Clinique, 2020, v. 78, n. 4, p. 441, doi. 10.1684/abc.2020.1566
- By:
- Publication type:
- Article
Infantile‐onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-80
- By:
- Publication type:
- Article
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Antiglial Cell Autoantibodies and Childhood Epilepsy: A Case Report.
- Published in:
- Epilepsia (Series 4), 2005, v. 46, n. 8, p. 1308, doi. 10.1111/j.1528-1167.2005.53004.x
- By:
- Publication type:
- Article
Founder Effect in Patients with Unverricht-Lundborg Disease on Reunion Island.
- Published in:
- Epilepsia (Series 4), 2003, v. 44, n. 10, p. 1357, doi. 10.1046/j.1528-1157.2003.03703.x
- By:
- Publication type:
- Article
Interictal Paroxysmal Epileptic Discharges during Sleep in Childhood: Phenotypic Variability in a Family.
- Published in:
- Epilepsia (Series 4), 2003, v. 44, n. 6, p. 864, doi. 10.1046/j.1528-1157.2003.41002.x
- By:
- Publication type:
- Article
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
- Published in:
- Journal of Clinical Investigation, 2020, v. 130, n. 1, p. 143, doi. 10.1172/JCI128513
- By:
- Publication type:
- Article
Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 463, doi. 10.1002/jimd.12649
- By:
- Publication type:
- Article
Natural history of GM1 gangliosidosis—Retrospective cohort study of 61 French patients from 1998 to 2019.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 972, doi. 10.1002/jimd.12646
- By:
- Publication type:
- Article
Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 215, doi. 10.1002/jimd.12452
- By:
- Publication type:
- Article
Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1463, doi. 10.1002/jimd.12428
- By:
- Publication type:
- Article
Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1199, doi. 10.1002/jimd.12403
- By:
- Publication type:
- Article
Fatal accidental lipid overdose with intravenous composite lipid emulsion in a premature newborn: a case report.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1403815
- By:
- Publication type:
- Article
Efficacy of intravenous clonazepam for paediatric convulsive status epilepticus.
- Published in:
- Developmental Medicine & Child Neurology, 2024, v. 66, n. 8, p. 1053, doi. 10.1111/dmcn.15859
- By:
- Publication type:
- Article
Cognitive impairment in children with CACNA1A mutations.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family.
- Published in:
- Journal of Neurology, 2008, v. 255, n. 10, p. 1600, doi. 10.1007/s00415-008-0982-8
- By:
- Publication type:
- Article
Effect of Oxygen Administration on Paroxysmal Motor Events in Alternating Hemiplegia of Childhood.
- Published in:
- Movement Disorders, 2023, v. 38, n. 9, p. 1759, doi. 10.1002/mds.29561
- By:
- Publication type:
- Article
Oxygen Therapy: An Acute Treatment for Paroxysmal Dystonia in Alternating Hemiplegia of Childhood?
- Published in:
- Movement Disorders, 2023, v. 38, n. 5, p. 906, doi. 10.1002/mds.29357
- By:
- Publication type:
- Article
Functional classification of ATM variants in ataxia‐telangiectasia patients.
- Published in:
- Human Mutation, 2019, v. 40, n. 10, p. 1713, doi. 10.1002/humu.23778
- By:
- Publication type:
- Article
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
- Published in:
- Human Mutation, 2017, v. 38, n. 5, p. 524, doi. 10.1002/humu.23181
- By:
- Publication type:
- Article
DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1213, doi. 10.1002/humu.21564
- By:
- Publication type:
- Article
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
- Published in:
- Human Mutation, 2011, v. 32, n. 1, p. E1959, doi. 10.1002/humu.21373
- By:
- Publication type:
- Article
Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 12, p. 2163, doi. 10.3390/jcm8122163
- By:
- Publication type:
- Article
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 8, p. 1096, doi. 10.3390/jcm8081096
- By:
- Publication type:
- Article
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 14, p. 3948, doi. 10.1093/hmg/ddv133
- By:
- Publication type:
- Article