Lafora Disease

Lafora disease is an inherited neurodegenerative disorder characterized by the presence of abnormal glycogen inclusions, called Lafora bodies, in neurons and other tissues. Here is the latest research on this fatal autosomal recessive disorder.

October 12, 2021

From corpora amylacea to wasteosomes: history and perspectives.

Ageing Research Reviews
Marta RibaCarme Pelegrí
September 27, 2021

Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes.

Epilepsy & Behavior Reports
Ioannis ZaganasAthanasios Evangeliou
September 6, 2021

A retrospective case series of clinical signs in 28 Beagles with Lafora disease.

Journal of Veterinary Internal Medicine
Thomas FlegelJosephine Dietzel
August 19, 2021

Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency.

Neuropathology and Applied Neurobiology
Christer ThomsenAnders Oldfors
August 17, 2021

Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.

Orphanet Journal of Rare Diseases
F. PondrelliFrancesca Bisulli
August 6, 2021
Open Access

Canine Lafora Disease: An Unstable Repeat Expansion Disorder.

Thilo von KlopmannClare Rusbridge
July 31, 2021
Open Access

Genome-wide association study of pancreatic fat: The Multiethnic Cohort Adiposity Phenotype Study.

PloS One
Samantha A StreicherLoïc Le Marchand
July 25, 2021

Lafora disease: Current biology and therapeutic approaches.

Revue neurologique
Sharmistha MitraBerge A Minassian
July 15, 2021
Case Report

NHLRC1 homozygous dodecamer expansion in a Newfoundland dog with Lafora disease.

The Journal of Small Animal Practice
L MariA Kehl
July 2, 2021
Open Access

Retinal alterations in patients with Lafora disease.

American Journal of Ophthalmology Case Reports
Heather HeitkotterBerge A Minassian
June 21, 2021

EPM2A in-frame deletion slows neurological decline in Lafora Disease.

Seizure : the Journal of the British Epilepsy Association
Lysa Boissé LomaxBerge A Minassian
June 20, 2021
Open Access

NATURAL HISTORY OF LAFORA DISEASE A Prognostic Systematic Review and Individual Participant Data Meta-Analysis.

MedRxiv : the Preprint Server for Health Sciences
F. PondrelliFrancesca Bisulli
June 12, 2021

The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.

Journal of Human Genetics
Garen HaryanyanNerses Bebek
June 3, 2021
Open Access

Lack of p62 impairs glycogen aggregation and exacerbates pathology in a mouse model of myoclonic epilepsy of Lafora

BioRxiv : the Preprint Server for Biology
P. PellegriniJordi Duran
June 3, 2021
Open Access

Beneficial Effects of Metformin on the Central Nervous System, with a Focus on Epilepsy and Lafora Disease.

International Journal of Molecular Sciences
Pascual SanzMarina P Sánchez
May 28, 2021

Brain glycogen serves as a critical glucosamine cache required for protein glycosylation.

Cell Metabolism
Ramon C SunMatthew S Gentry
May 12, 2021
Case Report
Open Access

Frontal Hypoperfusion and the Effectiveness of Perampanel in Long-Lived Patient with Lafora Disease.

Case Reports in Neurology
Koji ObaraItaru Toyoshima
May 8, 2021

A novel gene therapy for neurodegenerative Lafora disease via EPM2A-loaded DLinDMA lipoplexes.

Hari Priya VemanaVikas V Dukhande
May 5, 2021

The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure.

Epilepsy & Behavior : E&B
Kia H MarkussenMatthew S Gentry
May 1, 2021
Open Access

TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.

Lorena KumarasingheGermana Meroni

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