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Retricted access

Research article

First published 2023-10

Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease

Shital H. Patel, Eleni Panagiotakaki, Maria T. Papadopoulou [...]

Journal of Child Neurology

Open access

Research article

First published 2025

Development of a Patient and Caregiver-Centered Pediatric Disease Concept Model for Kleefstra Syndrome

Kristen L. Connors, Nikkola E. Carmichael, Terry Jo Bichell [...]

Sage Open Pediatrics

Open access

Research article

First published 2023-5

Electroencephalographic (EEG) Biomarkers in Genetic Neurodevelopmental Disorders

Kimberly Goodspeed, Dallas Armstrong, Alison Dolce [...]

Journal of Child Neurology

Open access

Case report

First published 2023

Pelizaeus-Merzbacher Disease in a 4-Year-Old Female Child: “A Rare Case Report”

Devesh Gagan, Sudesh Kumar, Piyali Bhattacharya [...]

Sage Open Pediatrics

Open access

Research article

First published 2024

The MED13L Foundation strategic research plan: a roadmap to the future

Rachel Heilmann, Anna Pfalzer, Terry Jo Bichell [...]

Therapeutic Advances in Rare Disease

Open access

Review article

First published 2024

SLC6A1 patient & organization perspective: founding of SLC6A1 connect,research,and ongoing efforts

Jacob Tiller, Melissa B. DeLeeuw, Jing-Qiong Kang [...]

Therapeutic Advances in Rare Disease

Retricted access

Research article

First published 2016-3

Integrative Review of Genetic Factors Influencing Neurodevelopmental Outcomes in Preterm Infants

Lisa M. Blair, Rita H. Pickler, Cindy Anderson

Biological Research For Nursing

Retricted access

Research article

First published 2025-6

15q24 Duplication: A Case Report of Neurodevelopmental Delay

Agustín Cámara-Domínguez, Alexandra Margaret Stuart-Aguiar, Nicte-Há Asunción Fuentes-Canto [...]

Clinical Pediatrics

Retricted access

Research article

First published 2021-11

Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency,a Rare Disorder of GABA Metabolism

Mousumi Bose, Jean-Baptiste Roullet, K. Michael Gibson [...]

Journal of Child Neurology

Retricted access

Case report

First published 2019-10

Expanding the Phenotype: Neurodevelopmental Disorder,Mitochondrial,With Abnormal Movements and Lactic Acidosis,With or Without Seizures (NEMMLAS) due to WARS2 Biallelic Variants,Encoding Mitochondrial Tryptophanyl-tRNA Synthase

Manveen Virdee, Eroshini Swarnalingam, Mariya Kozenko [...]

Journal of Child Neurology

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