Found: 21
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Exploring concurrent validity of the CLN2 Clinical Rating Scale: Comparison to PedsQL using cerliponase alfa clinical trial data.
- Published in:
- PLoS ONE, 2024, v. 19, n. 5, p. 1, doi. 10.1371/journal.pone.0302382
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- Publication type:
- Article
La Crosse Virus Neuroinvasive Disease in Children: A Contemporary Analysis of Clinical/Neurobehavioral Outcomes and Predictors of Disease Severity.
- Published in:
- Clinical Infectious Diseases, 2023, v. 76, n. 3, p. e1114, doi. 10.1093/cid/ciac403
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- Publication type:
- Article
Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006180
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- Publication type:
- Article
Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006165
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- Publication type:
- Article
Risperidone or Aripiprazole Can Resolve Autism Core Signs and Symptoms in Young Children: Case Study.
- Published in:
- 2021
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- Publication type:
- Case Study
Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.
- Published in:
- Journal of Child Neurology, 2021, v. 36, n. 6, p. 468, doi. 10.1177/0883073820977997
- By:
- Publication type:
- Article
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Pharmacological Intervention in Children with Autism Spectrum Disorder with Standard Supportive Therapies Significantly Improves Core Signs and Symptoms: A Single-Center, Retrospective Case Series.
- Published in:
- Neuropsychiatric Disease & Treatment, 2020, v. 16, p. 2779, doi. 10.2147/NDT.S277294
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- Publication type:
- Article
Batten disease and perioperative complications: a retrospective descriptive study.
- Published in:
- Journal of Anesthesia, 2020, v. 34, n. 3, p. 342, doi. 10.1007/s00540-020-02747-1
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- Publication type:
- Article
1875. La Crosse Virus Neuroinvasive Disease in Children: A Contemporary Review and Evaluation for Predictors of Disease Severity.
- Published in:
- Open Forum Infectious Diseases, 2019, v. 6, p. S47, doi. 10.1093/ofid/ofz359.105
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- Publication type:
- Article
In Memoriam: Paul Richard Dyken, MD (1934-2017)*.
- Published in:
- 2018
- By:
- Publication type:
- Obituary
Low‐level expression of <italic>EPG5</italic> leads to an attenuated Vici syndrome phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1207, doi. 10.1002/ajmg.a.38676
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- Publication type:
- Article
Unique Characteristics of the Photoparoxysmal Response in Patients With Neuronal Ceroid Lipofuscinosis Type 2.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 13, p. 1475, doi. 10.1177/0883073816658659
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- Publication type:
- Article
Recurrent central nervous system white matter changes in charcot-Marie-Tooth type X disease.
- Published in:
- 2014
- By:
- Publication type:
- Other
Role of Methylenetetrahydrofolate Reductase Gene (MTHFR) 677C>T Polymorphism in Pediatric Cerebrovascular Disorders.
- Published in:
- Journal of Child Neurology, 2011, v. 26, n. 3, p. 318, doi. 10.1177/0883073810381446
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- Publication type:
- Article
Phenotypic Variations in 3 Children With POLG1 Mutations.
- Published in:
- Journal of Child Neurology, 2009, v. 24, n. 4, p. 482, doi. 10.1177/0883073808324539
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- Publication type:
- Article
Periodic Lateralized Epileptiform Discharges in La Crosse Encephalitis, a Worrisome Subgroup: Clinical Presentation, Electroencephalogram (EEG) Patterns, and Long-Term Neurologic Outcome.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 2, p. 167, doi. 10.1177/0883073807307984
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- Publication type:
- Article
Inflammatory Bowel Disease and Cerebrovascular Arterial and Venous Thromboembolic Events in 4 Pediatric Patients: A Case Series and Review of the Literature.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 1, p. 59, doi. 10.1177/0883073807308706
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- Publication type:
- Article
Profound Infantile Neuroretinal Dysfunction in a Heterozygote for the CLN3 Genetic Defect.
- Published in:
- Journal of Child Neurology, 2004, v. 19, n. 1, p. 42, doi. 10.1177/08830738040190010703
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- Publication type:
- Article
Abstracts.
- Published in:
- Journal of Child Neurology, 1998, v. 13, n. 5, p. 232
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- Publication type:
- Article
Abstracts.
- Published in:
- 1997
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- Publication type:
- Abstract