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KCTD7‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 3, p. 709, doi. 10.1111/epi.17880
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- Publication type:
- Article
Long-term follow-up of an attenuated presentation of NAXE-related disease, a potentially actionable neurometabolic disease: a case report.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1204848
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- Publication type:
- Article
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 4, p. 355, doi. 10.1093/hmg/ddad188
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- Publication type:
- Article
Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1254140
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- Publication type:
- Article
A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report.
- Published in:
- Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1214137
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- Publication type:
- Article
Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.
- Published in:
- 2022
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- Publication type:
- Case Study
De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.804078
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- Publication type:
- Article
A live-online mindfulness-based intervention for children living with epilepsy and their families: protocol for a randomized controlled trial of Making Mindfulness Matter©.
- Published in:
- 2020
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- Publication type:
- journal article
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 50, n. 1, p. 20, doi. 10.1002/jmd2.12057
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- Publication type:
- Article
Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 7, p. 1384, doi. 10.3390/ijms18071384
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- Publication type:
- Article
Menkes disease: what a multidisciplinary approach can do.
- Published in:
- Journal of Multidisciplinary Healthcare, 2016, v. 9, p. 371, doi. 10.2147/JMDH.S93454
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- Publication type:
- Article
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 9, p. e106, doi. 10.1111/epi.12730
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- Publication type:
- Article
Risk factors for nonsyndromic holoprosencephaly: A Manitoba case-control study.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 751, doi. 10.1002/ajmg.a.35240
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- Publication type:
- Article
Natural History of Temporal Lobe Epilepsy: Antecedents and Progression.
- Published in:
- Epilepsy Research & Treatment, 2012, p. 1, doi. 10.1155/2012/195073
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- Publication type:
- Article
Predictive Value of the Lymphocyte Toxicity Assay in the Diagnosis of Drug Hypersensitivity Syndrome.
- Published in:
- Molecular Diagnosis & Therapy, 2010, v. 14, n. 5, p. 317, doi. 10.1007/BF03256387
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- Publication type:
- Article
Agenesis of the corpus callosum and cerebral anomalies in inborn errors of metabolism.
- Published in:
- Congenital Anomalies, 2007, v. 47, n. 4, p. 125, doi. 10.1111/j.1741-4520.2007.00160.x
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- Publication type:
- Article
Book Review.
- Published in:
- 2006
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- Publication type:
- Book Review
The Floppy Infant: Retrospective Analysis of Clinical Experience (1990-2000) in a Tertiary Care Facility.
- Published in:
- Journal of Child Neurology, 2005, v. 20, n. 10, p. 803, doi. 10.1177/08830738050200100401
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- Publication type:
- Article
Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 4, p. 711
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- Publication type:
- Article
Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort.
- Published in:
- 2005
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- Publication type:
- journal article
Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.
- Published in:
- Clinical Genetics, 2000, v. 57, n. 2, p. 103, doi. 10.1034/j.1399-0004.2000.570203.x
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- Publication type:
- Article
Argininemia: A Treatable Genetic Cause of Progressive Spastic Diplegia Simulating Cerebral Palsy...
- Published in:
- Journal of Child Neurology, 1997, v. 12, n. 5, p. 301
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- Publication type:
- Article