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Research article

First published 2020-05

Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases

David Staněk, Lucie Sedláčková, Pavel Seeman [...]

Genetic Testing and Molecular Biomarkers

Open access

Review article

First published 2014-02

Exon-Skipping Antisense Oligonucleotides to Correct Missplicing in Neurogenetic Diseases

Kavitha Siva, Giuseppina Covello, Michela A. Denti

Nucleic Acid Therapeutics

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Review article

First published 2019-09

Neurogenetics of the Human Adenosine Receptor Genes: Genetic Structures and Involvement in Brain Diseases

Vincent Huin, Claire-Marie Dhaenens, Mégane Homa [...]

Journal of Caffeine and Adenosine Research

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Brief report

First published 2018-1-23

SORL1 Variants in Familial Alzheimer’s Disease

Estrella Gómez-Tortosa, María Ruggiero, Ma José Sainz [...]

Journal of Alzheimer’s Disease

Open access

Letter

First published 2025-5

Investigating the prevalence of the G2019S mutation in Parkinson's disease among a Libyan population

Nuri H Awayn, Sara A Hashish, Sultan A Salem [...]

Journal of Parkinson’s Disease

Open access

Review article

First published 2014

The Challenge of Next Generation Sequencing in the Context of Neuromuscular Diseases

Monkol Lek, Daniel MacArthur

Journal of Neuromuscular Diseases

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Research article

First published 2025-12

Psychopharmacology Clinical Trial Recruitment Challenges in Neurogenetic Syndromes: Lessons from an Open-Label Trial of Fluoxetine in Down Syndrome

Kimaya R. Gracias, Laura Sarnie, Michelle Palumbo [...]

Journal of Child and Adolescent Psychopharmacology

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Other

First published 1995-11

Transgenic mice: What are we learning about gene function and neurological disease?

Frank M. Longo

The Neuroscientist

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Other

First published 1995-01

Huntington's Disease: Lessons from and for Molecular Neuroscience

Anne B. Young

The Neuroscientist

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Case report

First published 2019-5

Relapsing remitting multiple sclerosis in progressive external ophthalmoplegia: A report of two cases

Kevin R Patel, Amel Karaa, Farrah J Mateen

Multiple Sclerosis Journal

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