Progressive Myoclonic Epilepsy

Progressive myoclonic epilepsy (PME) is a heterogeneous group of epilepsies characterized by myoclonus seizures and progressive neurological symptoms. Discover the latest research on PME here.

June 28, 2020

Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retina pigment epithelium

Biochimica Et Biophysica Acta. Molecular Basis of Disease
Yu ZhongQing Jun Wang
July 10, 2020

Intracranial calcifications in childhood: Part 2

Pediatric Radiology
Fabricio Guimarães GonçalvesArastoo Vossough
June 20, 2020
Open Access

Measurements of the Timescale and Conformational Space of AMPA Receptor Desensitization

Biophysical Journal
Hector SalazarAndrew J R Plested
June 2, 2020

Polyglucosan body structure in Lafora disease

Carbohydrate Polymers
M Kathryn BrewerMatthew S Gentry
July 1, 2020
Open Access

A tailored Cln3Q352X mouse model for testing therapeutic interventions in CLN3 Batten disease

Scientific Reports
Logan LanginJill M Weimer
August 1, 2020

The immunogenetics of sexual parasitism

Science
Jeremy B SwannThomas Boehm
July 1, 2020

Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia

Journal of Alzheimer's Disease : JAD
Leonie J M VergouwVincenzo Bonifati
July 21, 2020
Open Access

Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity

JIMD Reports
Willemijn F E KuperPeter M van Hasselt
July 1, 2020
Open Access

A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer

The Journal of Clinical Investigation
Lakshya BajajMarco Sardiello
August 6, 2020
Case Report
Open Access

Severe chronic bowel obstruction associated with brown bowel syndrome

SAGE Open Medical Case Reports
Yan Chen WongworawatCamilla Cobb
July 10, 2020
Open Access

A MELAS Patient Developing Fatal Acute Renal Failure with Lactic Acidosis and Rhabdomyolysis

Internal Medicine
Hisashi ItoTetsumasa Kamei

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