Batten Disease

Batten Disease is a group of nervous system disorders known as neuronal ceroid lipofuscinosis. This feed focuses on neurobiological and neuropathological aspects of this disease.

October 29, 2020

Protein Delivery by Peptide-Based Stealth Liposomes: A Biomolecular Insight into Enzyme Replacement Therapy

Molecular Pharmaceutics
Melissa SantiGiovanni Signore
October 21, 2020
Preprint
Open Access

Mitochondrial collapse links PFKFB3-promoted glycolysis with CLN7/MFSD8 neuronal ceroid lipofuscinosis pathogenesis

BioRxiv : the Preprint Server for Biology
I. Lopez-FabuelJ. P. Bolanos
November 27, 2020
Review

Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy

Drugs
Nicola SpecchioFederico Vigevano
November 4, 2020
Review
Open Access

Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease

International Journal of Molecular Sciences
Elena K Shematorova, George V Shpakovski
October 1, 2020
Case Report
Open Access

MRI findings in neuronal ceroid lipofuscinosis

Radiology Case Reports
Anna M CrainCory M Pfeifer
November 3, 2020
Open Access

Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia

Neurology. Genetics
Yasuko OdakeMitsuhiro Yoshita
October 8, 2020
Case Report
Open Access

Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations - A previously unreported association

Epilepsy & Behavior Reports
Jamie TalbotFergus Rugg-Gunn
October 28, 2020
Preprint
Open Access

Guidelines on the Diagnosis, Clinical Assessments, Treatment and Management for CLN2 Disease Patients

ResearchSquare
Sara E MoleRuth Williams
January 11, 2021

Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study

Journal of Internal Medicine
K J O'BrienB R Gochuico
October 20, 2020
Open Access

Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation

Acta Ophthalmologica
Willemijn F E KuperMaria M van Genderen
December 4, 2020
Open Access

Slowing late infantile Batten disease by direct brain parenchymal administration of a rh.10 adeno-associated virus expressing CLN2

Science Translational Medicine
Dolan SondhiRonald G Crystal
October 3, 2020
Open Access

Sex differences in gene expression with galactosylceramide treatment in Cln3Δex7/8 mice

PloS One
Joelle MakoukjiRose-Mary Boustany
January 6, 2021
Preprint
Open Access

Generation of Pathogenic TPP1 Mutations in Human Stem Cells as a Model for CLN2 Disease

BioRxiv : the Preprint Server for Biology
L. MaEric M. Morrow
December 15, 2020
Review

Ophthalmological manifestations of neuronal ceroid lipofuscinoses (NCL) : NCL as diseases of brain and retina-the role of ophthalmologists

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
Yevgeniya AtiskovaSimon Dulz
December 21, 2020
Review
Open Access

Impaired autophagy: The collateral damage of lysosomal storage disorders

EBioMedicine
Rachel MyerowitzNina Raben

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