U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 32

1.
Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy
Francesco Di Matteo, Fabrizia Pipicelli, Christina Kyrousi, Isabella Tovecci, Eduardo Penna, Marianna Crispino, Angela Chambery, Rosita Russo, Ane Cristina Ayo‐Martin, Martina Giordano, Anke Hoffmann, Emilio Ciusani, Laura Canafoglia, Magdalena Götz, Rossella Di Giaimo, Silvia Cappello
EMBO Mol Med. 2020 Jun 8; 12(6): e11419. Published online 2020 May 7. doi: 10.15252/emmm.201911419
PMCID:
PMC7278547
AbstractArticlePDF–4.6M
2.
Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22.
A E Lehesjoki, M Koskiniemi, P Sistonen, J Miao, J Hästbacka, R Norio, A de la Chapelle
Proc Natl Acad Sci U S A. 1991 May 1; 88(9): 3696–3699. doi: 10.1073/pnas.88.9.3696
PMCID:
PMC51519
SummaryPage BrowsePDF–775K
3.
Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.
N G Larsson, M H Tulinius, E Holme, A Oldfors, O Andersen, J Wahlström, J Aasly
Am J Hum Genet. 1992 Dec; 51(6): 1201–1212.
PMCID:
PMC1682923
SummaryPage BrowsePDF–1.7M
4.
Dentatorubropallidoluysian atrophy in a Spanish family: a clinical, radiological, pathological, and genetic study
E Munoz, M Mila, A Sanchez, P Latorre, A Ariza, M Codina, F Ballesta, E Tolosa
J Neurol Neurosurg Psychiatry. 1999 Dec; 67(6): 811–814. doi: 10.1136/jnnp.67.6.811
PMCID:
PMC1736671
SummaryPDF–117K
5.
A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome
Alexander G. Bassuk, Robyn H. Wallace, Aimee Buhr, Andrew R. Buller, Zaid Afawi, Masahito Shimojo, Shingo Miyata, Shan Chen, Pedro Gonzalez-Alegre, Hilary L. Griesbach, Shu Wu, Marcus Nashelsky, Eszter K. Vladar, Dragana Antic, Polly J. Ferguson, Sebahattin Cirak, Thomas Voit, Matthew P. Scott, Jeffrey D. Axelrod, Christina Gurnett, Azhar S. Daoud, Sara Kivity, Miriam Y. Neufeld, Aziz Mazarib, Rachel Straussberg, Simri Walid, Amos D. Korczyn, Diane C. Slusarski, Samuel F. Berkovic, Hatem I. El-Shanti
Am J Hum Genet. 2008 Nov 17; 83(5): 572–581. doi: 10.1016/j.ajhg.2008.10.003
PMCID:
PMC2668041
AbstractArticlePDF–889K
6.
Lafora disease: Insights into neurodegeneration from plant metabolism
Matthew S. Gentry, Jack E. Dixon, Carolyn A. Worby
Trends Biochem Sci. Author manuscript; available in PMC 2010 Jun 1.
Published in final edited form as: Trends Biochem Sci. 2009 Dec; 34(12): 628–639. Published online 2009 Oct 7. doi: 10.1016/j.tibs.2009.08.002
PMCID:
PMC2805077
AbstractArticlePDF–2.1M
7.
Encephalopathy with Neuroserpin Inclusion Bodies Presenting as Progressive Myoclonus Epilepsy and Associated with a Novel Mutation in the Proteinase Inhibitor 12 Gene
Matthew C. Hagen, Jill R. Murrell, Marie‐Bernadette Delisle, Eva Andermann, Frederick Andermann, Marie Christine Guiot, Bernardino Ghetti
Brain Pathol. 2011 Sep; 21(5): 575–582. Published online 2011 Mar 24. doi: 10.1111/j.1750-3639.2011.00481.x
PMCID:
PMC3709456
AbstractArticlePDF–1.4M
8.
Beyond cervical lipomas: myoclonus, gait disorder and multisystem involvement leading to mitochondrial disease
Roberto López-Blanco, Ana Rojo-Sebastián, Maria Henedina Torregrosa-Martínez, Alberto Blazquez
BMJ Case Rep. 2017; 2017: bcr2016218861. Published online 2017 Jun 19. doi: 10.1136/bcr-2016-218861
PMCID:
PMC5534751
AbstractArticlePDF–7.4M
9.
Lafora disease in miniature Wirehaired Dachshunds
Lindsay Swain, Gill Key, Anna Tauro, Saija Ahonen, Peixiang Wang, Cameron Ackerley, Berge A. Minassian, Clare Rusbridge
PLoS One. 2017; 12(8): e0182024. Published online 2017 Aug 2. doi: 10.1371/journal.pone.0182024
PMCID:
PMC5540395
AbstractArticlePDF–9.4M
10.
NHLRC1 repeat expansion in two Beagles with Lafora disease
IVO HAJEK, FRANK KETTNER, VERONIKA SIMERDOVA, CLARE RUSBRIDGE, PEIXIANG WANG, BERGE A. MINASSIAN, VIKTOR PALUS
J Small Anim Pract. Author manuscript; available in PMC 2017 Oct 26.
Published in final edited form as: J Small Anim Pract. 2016 Nov; 57(11): 650–652. Published online 2016 Oct 16. doi: 10.1111/jsap.12593
PMCID:
PMC5658008
AbstractArticlePDF–105K
11.
Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies
Jörn M. Völker, Mykola Dergai, Luciano A. Abriata, Yves Mingard, Daniel Ysselstein, Dimitri Krainc, Matteo Dal Peraro, Gabriele Fischer von Mollard, Dirk Fasshauer, Judith Koliwer, Michael Schwake
Dis Model Mech. 2017 Dec 1; 10(12): 1391–1398. doi: 10.1242/dmm.029132
PMCID:
PMC5769602
AbstractArticle
12.
CO2-sensitive tRNA modification associated with human mitochondrial disease
Huan Lin, Kenjyo Miyauchi, Tai Harada, Ryo Okita, Eri Takeshita, Hirofumi Komaki, Kaoru Fujioka, Hideki Yagasaki, Yu-ichi Goto, Kaori Yanaka, Shinichi Nakagawa, Yuriko Sakaguchi, Tsutomu Suzuki
Nat Commun. 2018; 9: 1875. Published online 2018 May 14. doi: 10.1038/s41467-018-04250-4
PMCID:
PMC5951830
AbstractArticlePDF–2.4M
13.
A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan
Hatem El-Shanti, Azhar Daoud, Ammar A. Sadoon, Suzanne M. Leal, Shan Chen, Kwanghyuk Lee, Ronald Spiegel
Brain Dev. Author manuscript; available in PMC 2018 Sep 18.
Published in final edited form as: Brain Dev. 2006 Jul; 28(6): 353–357. Published online 2006 Jan 10. doi: 10.1016/j.braindev.2005.11.003
PMCID:
PMC6143173
AbstractArticlePDF–321K
14.
Antimyoclonic Effect of Levetiracetam and Clonazepam Combined Treatment on Myoclonic Epilepsy with Ragged-Red Fiber Syndrome with m.8344A>G Mutation
Li-Jun Su, Yu-Liang Wang, Tao Han, Shan Qiao, Ke-Jun Zang, Huai-Kuan Wu, Yong-Xin Su, Ling-Ling Liu, Xue-Wu Liu
Chin Med J (Engl) 2018 Oct 20; 131(20): 2433–2438. doi: 10.4103/0366-6999.243568
PMCID:
PMC6202596
AbstractArticlePDF–1020K
15.
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy
Steffen Syrbe, Frederike L Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L Helbig, Tilman Polster, Beate Albrecht, Ulrich Bernbeck, Ellen van Binsbergen, Saskia Biskup, Lydie Burglen, Jonas Denecke, Bénédicte Heron, Henrike O Heyne, Georg F Hoffmann, Frauke Hornemann, Takeshi Matsushige, Ryuki Matsuura, Mitsuhiro Kato, G Christoph Korenke, Alma Kuechler, Constanze Lämmer, Andreas Merkenschlager, Cyril Mignot, Susanne Ruf, Mitsuko Nakashima, Hirotomo Saitsu, Hannah Stamberger, Tiziana Pisano, Jun Tohyama, Sarah Weckhuysen, Wendy Werckx, Julia Wickert, Francesco Mari, Nienke E Verbeek, Rikke S Møller, Bobby Koeleman, Naomichi Matsumoto, William B Dobyns, Domenica Battaglia, Johannes R Lemke, Kerstin Kutsche, Renzo Guerrini
Brain. 2017 Sep; 140(9): 2322–2336. Published online 2017 Aug 24. doi: 10.1093/brain/awx195
PMCID:
PMC6248409
AbstractArticlePDF–741K
16.
VAL-1221 for the treatment of patients with Lafora disease: study protocol for a single-arm, open-label clinical trial
Lorenzo Muccioli, Luca Vignatelli, Maria Tappatà, Serena Mazzone, Corrado Zenesini, Dustin Armstrong, DEFEAT-LD study group, Roberto Michelucci, Francesca Bisulli
BMJ Open. 2024; 14(10): e085062. Published online 2024 Oct 18. doi: 10.1136/bmjopen-2024-085062
PMCID:
PMC11492954
AbstractArticlePDF–609K
17.
线粒体DNA 8344 A>G突变导致的MELAS/MERRF/Leigh重叠综合征
候 越, 赵 旭彤, 谢 志颖, 袁 云, 王 朝霞
Beijing Da Xue Xue Bao Yi Xue Ban. 2020 Oct 18; 52(5): 851–855. Chinese. Published online 2020 Sep 3. doi: 10.19723/j.issn.1671-167X.2020.05.009
PMCID:
PMC7653412
AbstractArticlePDF–4.5M
18.
An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice
Silvia Nitschke, Erin E. Chown, Xiaochu Zhao, Shoghig Gabrielian, Sara Petković, Dikran R. Guisso, Ami M. Perri, Peixiang Wang, Saija Ahonen, Felix Nitschke, Berge A. Minassian
J Biol Chem. 2021 Jan-Jun; 296: 100150. Published online 2020 Dec 10. doi: 10.1074/jbc.RA120.015773
PMCID:
PMC7857511
AbstractArticlePDF–3.8M
19.
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations
Antonella Riva, Alessandro Orsini, Marcello Scala, Vittoria Taramasso, Laura Canafoglia, Giuseppe d’Orsi, Maria Teresa Di Claudio, Carlo Avolio, Alfredo D’Aniello, Maurizio Elia, Silvana Franceschetti, Giancarlo Di Gennaro, Francesca Bisulli, Paolo Tinuper, Maria Tappatà, Antonino Romeo, Elena Freri, Carla Marini, Cinzia Costa, Vito Sofia, Edoardo Ferlazzo, Adriana Magaudda, Pierangelo Veggiotti, Elena Gennaro, Angela Pistorio, Carlo Minetti, Amedeo Bianchi, Salvatore Striano, Roberto Michelucci, Federico Zara, Berge Arakel Minassian, Pasquale Striano
J Neurol Sci. Author manuscript; available in PMC 2022 May 15.
Published in final edited form as: J Neurol Sci. 2021 May 15; 424: 117409. Published online 2021 Mar 20. doi: 10.1016/j.jns.2021.117409
PMCID:
PMC8166462
AbstractArticlePDF–516K
20.
A retrospective case series of clinical signs in 28 Beagles with Lafora disease
Thomas Flegel, Marion Kornberg, Franziska Mühlhause, Sophie Neumann, Andrea Fischer, Franziska Wielaender, Florian König, Akos Pakozdy, Pia R. Quitt, Andrea M. Trapp, Konrad Jurina, Frank Steffen, Kai W. Rentmeister, Cornelia Flieshardt, Josephine Dietzel
J Vet Intern Med. 2021 Sep-Oct; 35(5): 2359–2365. Published online 2021 Sep 5. doi: 10.1111/jvim.16255
PMCID:
PMC8478043
AbstractArticlePDF–395K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center