Results 71 to 80 of about 4,843,940 (181)

Enfermedad de Lafora y efecto fundador en una pequeña localidad neotropical

Revista de Biología Tropical, 2000
La enfermedad de Lafora es una condición genética infrecuente. Cuatro casos (dos familias) fueron detectados en Zarcero, una pequeña localidad de Costa Rica (población bajo 2000).
María Virginia Solís
doaj  

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. [PDF]

, 2010
The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of ...
Handley, Olivia J, Landwehrmeyer, G Bernhard, Aileen K Ho, Bisson, Jonathan Ian, Schwenke C, David Craufurd, Dunnett, Stephen B., Handley, Olivia, Investigators of the European Huntington's Disease Network, The, DI MARIA, EMILIO, Craufurd D, Dunnett, SB, Carsten Schwenke, the investigators of the European Huntington's Disease Network, Craufurd, David, Edward Wild, Landwehrmeyer, GB, Busse, Monica, Rosser, Anne Elizabeth, Olivia J Handley, Romano Silvia., Tabrizi SJ, Ho, Aileen K., Wild, E, Landwehrmeyer GB, Craufurd, D, Tabrizi, SJ, Tabrizi, Sarah J., Handley, OJ, Rickards, Hugh, Dunnett, Stephen, Ho, Aileen K, Orth, Michael, Ho, AK, Wild, Edward, Stephen B. Dunnett, Sarah J Tabrizi, Wild, EJ, Landwehrmeyer, G. Bernhard, Naji, Jenny, Landwehrmeyer, G. Bernhard, Wild E, Investigators of the European Huntington's Disease Network, Handley, Olivia J., Orth, M, Ellison-Rose, Lynda, Tabrizi, Sarah J, Price, Kathleen, Ho AK, ABBRUZZESE, GIOVANNI, Schwenke, C, Ho, A, Orth M, Handley OJ, Schwenke, Carsten, Dunnett SB, Dunnett, Stephen B, Michael Orth, G. Bernhard Landwehrmeyer   +59 more
core   +1 more source

Progressive Myoclonic Epilepsy: Lafora Disease - Clinical and Genetic Findings

, 2023
Progressive Myoclonic Epilepsy: Lafora Disease - Clinical and Genetic ...
Tan Kian Hua
core   +1 more source

Unverricht-Lundborg Disease

Pediatric Neurology Briefs, 1991
The progression of clinical and neurophysiological findings in a Swedish family with 4 siblings with Unverricht-Lundborg disease is reported from the Departments of Pediatrics and Clinical Neurophysiology, University of Gothenburgh, Sweden and Department
J Gordon Millichap
doaj   +1 more source

NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease [PDF]

, 2021
Lafora disease is an autosomal recessive disorder that causes myoclonic epilepsy1,2,3. The disease is characterized by the presence of polyglucosan inclusion bodies (Lafora bodies), predominantly in the central nervous system.
Jagannathan, Vidya, Leeb, Tosso, Maiolini, Arianna, Häni, Anna Katrin, Barrientos, Laura Soledad   +4 more
core  

Polyglucosan Body Structure in Lafora Disease [PDF]

, 2020
Abnormal carbohydrate structures known as polyglucosan bodies (PGBs) are associated with neurodegenerative disorders, glycogen storage diseases (GSDs), and aging.
Rondon, Alberto, Uittenbogaard, Annette, Uittenbogaard, Annette M., Gentry, Matthew S., Putaux, Jean-Luc, Sullivan, Mitchell A., Brewer, M. Kathryn, Gentry, Matthew, Sullivan, Mitchell   +8 more
core   +1 more source

Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic β-Cell Dysfunction and Insulin Resistance

Frontiers in Pediatrics, 2019
Lafora disease (LD) is a rare autosomal recessive disorder characterized by progressive myoclonic epilepsy followed by continuous neurological decline, culminating in death within 10 years.
Ramona C. Nicolescu, Sara Al-Khawaga, Berge A. Minassian, Khalid Hussain   +3 more
doaj   +1 more source

Familial adult myoclonus epilepsy: A comprehensive diagnostic strategy for clinical practice

Epilepsia, Volume 66, Issue 11, Page 4107-4121, November 2025.
Abstract Familial adult myoclonus epilepsy (FAME) is a genetic neurological disorder characterized by cortical myoclonus and epileptic seizures with clinical features that overlap with other movement disorders and epileptic syndromes, particularly essential tremor (ET), progressive myoclonic epilepsy (PME), and juvenile myoclonic epilepsy (JME).
Yitao Lu, Yi Ge, Ruyi Wang, Yang Zheng, Jiping Zhou, Zhongjin Wang, Chunhong Shen, Shan Wang, Lingli Hu, Bo Wang, Zhidong Cen, Wei Luo, Meiping Ding, Shuang Wang, Yao Ding   +14 more
wiley   +1 more source

Enhanced sensitivity of laforin- and malin-deficient mice to the convulsant agent pentylenetetrazole

Frontiers in Neuroscience, 2014
Lafora disease is a rare form of inherited progressive myoclonus epilepsy caused by mutations in the EPM2A gene encoding laforin, or in the EPM2B gene, which encodes malin.
Ana M García-Cabrero, Ana M García-Cabrero, Gentzane eSánchez-Elexpuru, Gentzane eSánchez-Elexpuru, José M Serratosa, José M Serratosa, Marina P Sanchez, Marina P Sanchez   +7 more
doaj   +1 more source