Canavan Disease

Canavan disease, a type of leukodystrophy, is an autosomal recessive neurodegenerative disorder, and is one of the most common degenerative cerebral diseases of infancy. Discover the latest research on Canavan disease here.

December 17, 2019
Case Report

A case of juvenile Canavan disease with distinct pons involvement

Brain & Development
Nafiye Emel Çakar, Tuğçe Aksu Uzunhan
August 26, 2018
Open Access

Neonatal testis growth recreated in vitro by two-dimensional organ spreading

Biotechnology and Bioengineering
Kazuaki KojimaTakehiko Ogawa
December 15, 2020
Review
Open Access

Current Clinical Applications of in vivo Gene Therapy with AAVs

Molecular Therapy : the Journal of the American Society of Gene Therapy
Jerry R MendellJacques P Tremblay
September 1, 2018
Clinical Trial
Open Access

Therapeutic hypothermia to reduce intracranial pressure after traumatic brain injury: the Eurotherm3235 RCT

Health Technology Assessment : HTA
Peter Jd AndrewsGordon Murray
February 27, 2020
Review
Open Access

Management of Neuroinflammatory Responses to AAV-Mediated Gene Therapies for Neurodegenerative Diseases

Brain Sciences
Barbara A PerezManuela Corti
October 9, 2020
Preprint
Open Access

NGS based expanded pilot carrier screening study in North Indian population reveals unexpected results.

ResearchSquare
Kanika SinghIshwar Chander Verma
December 12, 2020
Open Access

Cell-Based Therapy for Canavan Disease Using Human iPSC-Derived NPCs and OPCs

Advanced Science
Lizhao FengYanhong Shi
October 19, 2018
Case Report
Open Access

A case report of Creutzfeldt-Jakob disease

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
O V KurushinaP S Krivonozhkina
March 6, 2019
Open Access

First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan

BioMed Research International
Tawfiq Froukh
September 19, 2018
Review
Open Access

The PIN-FORMED Auxin Efflux Carriers in Plants

International Journal of Molecular Sciences
Jing-Jing Zhou, Jie Luo
September 24, 2019

Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Ahmed GilaniBette K Kleinschmidt-DeMasters
November 4, 2020
Open Access

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study

BMC Medical Genetics
Kanika SinghIshwar Chander Verma
August 18, 2018
Open Access

The Protean Acremonium . A. sclerotigenum/egyptiacum : Revision, Food Contaminant, and Human Disease

Microorganisms
Richard C SummerbellJames A Scott
December 12, 2018

Pathophysiology and Treatment of Canavan Disease

Neurochemical Research
David PleasureVanessa Hull
November 16, 2018

Allosteric Control of N-Acetyl-Aspartate Hydrolysis by the Y231C and F295S Mutants of Human Aspartoacylase

Journal of Chemical Information and Modeling
Ekaterina D KotsAlexander V Nemukhin
July 2, 2019
Open Access

Development of bisubstrate analog inhibitors of aspartate N-acetyltransferase, a critical brain enzyme

Chemical Biology & Drug Design
Vinay MutthamsettyRonald E Viola

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