Results 61 to 70 of about 4,843,940 (181)

Lafora Disease Masquerading as Hepatic Dysfunction [PDF]

, 2018
Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence.
Ali, Nouman Safdar, Khan, Zarak H., Abdullah, Hafez Mohammad A., Inayat, Faisal, Ullah, Waqas, Ilyas, Ghulam, Lodhi, Hanan T.   +6 more
core   +1 more source

The Timely Rise of a Teenage Reformer: Youth Revolt, Feminism and the Struggle for a ‘New Sexual Morality’ at the Dawn of the Spanish Second Republic

Gender &History, EarlyView.
ABSTRACT The contributions of propagandist and writer Hildegart (1914–1933) to Spanish cultural life are overshadowed by accounts of her unusual upbringing and violent death. This article examines the conditions that enabled the teenager to become a prominent voice for feminism and sexual reform on the eve of Spain's Second Republic (1931–1939).
Micaela Pattison
wiley   +1 more source

Genome Editing for Glycogen Storage Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Gene therapy has been developed for several glycogen storage diseases and has advanced into clinical trials. However, the limitations of these gene therapies with regard to stability following treatment early in life have led to the development of genome editing.
Troy von Beck, Raymond Wang, Dwight Koeberl   +2 more
wiley   +1 more source

Are c.436G>A mutations less severe forms of Lafora disease? A case report

Epilepsy and Behavior Case Reports, 2014
Lafora disease is a form of progressive myoclonic epilepsy with autosomal recessive transmission. Two genes have been identified so far: EPM2A and NHLRC1, and a third gene, concerning a pediatric onset subform, has been recently proposed.
Hélène-Marie Lanoiselée, Pierre Genton, Gaetan Lesca, Florence Brault, Bertrand De Toffol   +4 more
doaj   +1 more source

Progressive myoclonus epilepsy in Down syndrome with Alzheimer's disease: An 11‐year longitudinal study and proposed diagnostic red flags

Epilepsia Open, Volume 11, Issue 4, Page 1200-1213, August 2026.
Abstract Objective Individuals with Down syndrome (DS) face an ultra‐high risk of Alzheimer's disease (AD). Within this continuum, Progressive Myoclonus Epilepsy (PME) has emerged as a marker of advanced neurodegeneration. Building on our 2014 characterization of this syndrome, we aimed to define its long‐term natural history and pathological substrate.
Giuseppe d'Orsi, Ezio Calò, Maria Teresa Di Claudio, Carmela Pia Ferro, Umberto Costantino, Elio Perrone, Raffaela Rita Latino   +6 more
wiley   +1 more source

NHLRC1 repeat expansion in two beagles with Lafora disease

, 2016
Lafora disease is a fatal genetic disorder characterised by neurotoxic deposits of malformed insoluble glycogen. In humans it is caused by mutation in the EPM2A or NHLRC1 genes.
Minassian, BA, Palus, V, Kettner, F, Wang, P, Hajek, I, Simerdova, V, Rusbridge, Clare   +6 more
core   +2 more sources

Proteomic Profiling of Primary Hippocampal Neurons Reveals Noncanonical GFAP Expression and Metabolic Adaptations in Glia‐Free Culture

PROTEOMICS, Volume 26, Issue 7, Page 111-130, July 2026.
ABSTRACT Despite their widespread use as a research model, a comprehensive, quantitative proteomic profile of the cultured hippocampal neurons has remained unexplored. Here, we provide the first global proteomic characterization of primary murine hippocampal neurons cultured for 14 days under near‐physiological glucose conditions (2.5 mM).
Dominika Drulis‐Fajdasz, Kinga Gostomska‐Pampuch, Natalia Pudełko‐Malik, Mariusz Fleszar, Agnieszka Gizak, Jacek R. Wiśniewski, Dariusz Rakus   +6 more
wiley   +1 more source

Doença de Lafora: diagnóstico pela biopsia de músculo esquelético (relato de caso) Lafora's disease: diagnosis by muscle biopsy (case report)

Arquivos de Neuro-Psiquiatria, 2000
Uma paciente de 16 anos apresentava epilepsia mioclônica causada pela doença de Lafora. A biopsia muscular mostrou padrão vacuolar nas fibras musculares com as reações nicotinamida adenina tetrazolium redutase desidrogenase, hematoxilina-eosina e PAS.
ALZIRA ALVES DE SIQUEIRA CARVALHO, VIVIANA PALOU, MARIA SHEILA GUIMARÃES ROCHA, SONIA MARIA DOZZI BRUCKI, MEIRE ARGENTONI   +4 more
doaj   +1 more source

Unifying the Communities of Early‐Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1‐Related Disease

JIMD Reports, Volume 67, Issue 3, May 2026.
Genetic prevalence study of glycogen storage disease type IV. In collaboration with the Rare Genomes Project at the Broad Institute of MIT and Harvard and the APBD Research Foundation, this study queried and curated variants in GBE1 from ClinVar, HGMD, and gnomAD to calculate the genetic prevalence of glycogen storage disease type IV (GSD IV).
Rebecca L. Koch, H. Orhan Akman, Erin Chown, Deberah Goldman, Jeff Levenson, Qing Lu, Lindsay T. Michalovicz Gill, Matthew Morgan, Jennifer L. Orthmann‐Murphy, Natacha T. Pires, Rebecca Reef, Harriet Saxe, Moriel Singer‐Berk, Samantha Baxter   +13 more
wiley   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source