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Open access

Research article

First published 2025-7

Consensus Clinical Management Guideline for PLA2G6 -Associated Neurodegeneration (PLAN)

Jenny L. Wilson, Audrey K.S. Soo, Allison Gregory [...]

Journal of Child Neurology

Retricted access

Research article

First published 2026-3

Clinicoradiologic Features and Genetic Findings of Infantile Neuroaxonal Dystrophy

Esra Sarigecili, Habibe Koc Ucar, Sevcan Tug Bozdogan [...]

Journal of Child Neurology

Open access

Research article

First published 2020-7

The WWOX gene in brain development and pathology

K Kośla, Ż Kałuzińska, AK Bednarek

Experimental Biology and Medicine

Open access

Research article

First published 2022-08-16

3-Hydroxyacyl-CoA and Alcohol Dehydrogenase Activities of Mitochondrial Type 10 17β-Hydroxysteroid Dehydrogenase in Neurodegeneration Study

Xue-Ying He, Carl Dobkin, W.Ted Brown [...]

Journal of Alzheimer’s Disease

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Research article

First published 2013-9

Treatment of the Ppt1 –/– Mouse Model of Infantile Neuronal Ceroid Lipofuscinosis With the N -methyl- d -aspartate (NMDA) Receptor Antagonist Memantine

Rozzy Finn, Attila D. Kovács, David A. Pearce

Journal of Child Neurology

Retricted access

Research article

First published 2014-12

Epilepsy in Children With Menkes Disease

Alberto Verrotti, Alessia Carelli, Giangennaro Coppola

Journal of Child Neurology

Free access

Research article

First published 2019-3

Patient-Derived Phenotypic High-Throughput Assay to Identify Small Molecules Restoring Lysosomal Function in Tay–Sachs Disease

Dennis J. Colussi, Marlene A. Jacobson

Journal of Biomolecular Screening

Retricted access

Research article

First published 2005-09

Confronting the Issues of Therapeutic Misconception,Enrollment Decisions,and Personal Motives in Genetic Medicine-Based Clinical Research Studies for Fatal Disorders

Lisa M. Arkin, Dolan Sondhi, Stefan Worgall [...]

Human Gene Therapy

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Research article

First published 2005-06

The Arg482His Mutation in the β-Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village

Theodoros Georgiou, Goula Stylianidou, Violetta Anastasiadou [...]

Genetic Testing and Molecular Biomarkers

Open access

Article commentary

First published 2019-3

PUMILIO1 Links Epilepsy to Spinocerebellar Ataxia

Kyle A. Lyman, Dane M. Chetkovich

Epilepsy Currents

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