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 48

1.
“Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene”
Mohammed Ahmed Mohammed Oshi, Jaber Alfaifi, Youssef Ali M. Alqahtani, Mohammed Fahad Aljabri, Naglaa M. Kamal, Jwaher Althopaity, Khalid A. Althobaiti, Abdullah M. Almalki, Salma A. S. Abosabie, Sara A. Abosabie, Hanan Sakr Sherbiny, Saif K. Almanjoomi, Enas A. A. Abdallah
Mol Genet Genomic Med. 2024 Jan; 12(1): e2282. Published online 2023 Oct 6. doi: 10.1002/mgg3.2282
PMCID:
PMC10767415
AbstractArticlePDF–708K
2.
Frontal deficits and atrophy in a patient with familial encephalopathy with neuroserpin inclusion bodies detected by single-case voxel-based morphometry: a case report
Hideo Handa, Atsuhiko Sugiyama, Tadashi Kaname, Yoko Shigemoto, Noriko Sato, Shigeki Hirano, Yuki Nakagawa, Akiyuki Uzawa, Akiyo Aotsuka, Satoshi Kuwabara
BMC Neurol. 2024; 24: 9. Published online 2024 Jan 2. doi: 10.1186/s12883-023-03511-0
PMCID:
PMC10759324
AbstractArticlePDF–1.2M
3.
The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile
Michelle M. Lee, Graeme S. V. McDowell, Darryl C. De Vivo, Daniel Friedman, Samuel F. Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A. Sanchez‐Lara, Michelle Allen‐Sharpley, Jodi Warman‐Chardon, Alexander Solyom, Thierry Levade, Edward H. Schuchman, Steffany A. L. Bennett, David A. Dyment, Toni S. Pearson
Ann Clin Transl Neurol. 2022 Dec; 9(12): 1941–1952. Published online 2022 Nov 3. doi: 10.1002/acn3.51687
PMCID:
PMC9735369
AbstractArticlePDF–575K
4.
Kctd7 deficiency induces myoclonic seizures associated with Purkinje cell death and microvascular defects
Justine H. Liang, Jonathan Alevy, Viktor Akhanov, Ryan Seo, Cory A. Massey, Danye Jiang, Joy Zhou, Roy V. Sillitoe, Jeffrey L. Noebels, Melanie A. Samuel
Dis Model Mech. 2022 Sep 1; 15(9): dmm049642. Published online 2022 Sep 13. doi: 10.1242/dmm.049642
PMCID:
PMC9509889
AbstractArticle
5.
Meta-analysis of larvae of the black soldier fly (Hermetia illucens) microbiota based on 16S rRNA gene amplicon sequencing
Freek IJdema, Jeroen De Smet, Sam Crauwels, Bart Lievens, Leen Van Campenhout
FEMS Microbiol Ecol. 2022 Sep; 98(9): fiac094. Published online 2022 Aug 17. doi: 10.1093/femsec/fiac094
Correction in:
FEMS Microbiol Ecol. 2023 Nov; 99(11): fiad115.
PMCID:
PMC9453823
AbstractArticlePDF–2.1M
6.
Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype
Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Melanie Bahlo, Chontelle King, Matthew Coleman, Timothy E. Green, John Goldsmith, Suzanne Davis, Deepak Gill, Simone Mandelstam, Ingrid E. Scheffer, Lynette G. Sadleir
Epilepsia Open. 2022 Mar; 7(1): 170–180. Published online 2021 Nov 18. doi: 10.1002/epi4.12553
PMCID:
PMC8886097
AbstractArticlePDF–495K
7.
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
8.
Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis
Federica Pondrelli, Lorenzo Muccioli, Laura Licchetta, Barbara Mostacci, Corrado Zenesini, Paolo Tinuper, Luca Vignatelli, Francesca Bisulli
Orphanet J Rare Dis. 2021; 16: 362. Published online 2021 Aug 16. doi: 10.1186/s13023-021-01989-w
PMCID:
PMC8365996
AbstractArticlePDF–1.0M
9.
MR of childhood-onset dentatorubral-pallidoluysian atrophy.
M Miyazaki, T Kato, T Hashimoto, M Harada, I Kondo, Y Kuroda
AJNR Am J Neuroradiol. 1995 Oct; 16(9): 1834-6.
PMCID:
PMC8338218
SummaryPDF–214K
10.
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
11.
G-Quadruplexes as pathogenic drivers in neurodegenerative disorders
Ernest Wang, Ravi Thombre, Yajas Shah, Rachel Latanich, Jiou Wang
Nucleic Acids Res. 2021 May 21; 49(9): 4816–4830. Published online 2021 Mar 30. doi: 10.1093/nar/gkab164
PMCID:
PMC8136783
AbstractArticlePDF–2.1M
12.
Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes
Carolina Courage, Karen L. Oliver, Eon Joo Park, Jillian M. Cameron, Kariona A. Grabińska, Mikko Muona, Laura Canafoglia, Antonio Gambardella, Edith Said, Zaid Afawi, Betul Baykan, Christian Brandt, Carlo di Bonaventura, Hui Bein Chew, Chiara Criscuolo, Leanne M. Dibbens, Barbara Castellotti, Patrizia Riguzzi, Angelo Labate, Alessandro Filla, Anna T. Giallonardo, Geza Berecki, Christopher B. Jackson, Tarja Joensuu, John A. Damiano, Sara Kivity, Amos Korczyn, Aarno Palotie, Pasquale Striano, Davide Uccellini, Loretta Giuliano, Eva Andermann, Ingrid E. Scheffer, Roberto Michelucci, Melanie Bahlo, Silvana Franceschetti, William C. Sessa, Samuel F. Berkovic, Anna-Elina Lehesjoki
Am J Hum Genet. 2021 Apr 1; 108(4): 722–738. Published online 2021 Apr 1. doi: 10.1016/j.ajhg.2021.03.013
PMCID:
PMC8059372
AbstractArticlePDF–1.6M
13.
Breaking a single hydrogen bond in the mitochondrial tRNAPhe‐PheRS complex leads to phenotypic pleiotropy of human disease
Moshe Peretz, Dmitry Tworowski, Ekaterine Kartvelishvili, John Livingston, Zofia Chrzanowska‐Lightowlers, Mark Safro
FEBS J. 2020 Sep; 287(17): 3814–3826. Published online 2020 Mar 18. doi: 10.1111/febs.15268
PMCID:
PMC7540514
AbstractArticlePDF–5.9M
14.
Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
Sofía Sánchez-Iglesias, Melissa Crocker, Mar O’Callaghan, Alejandra Darling, Angels García-Cazorla, Rosario Domingo-Jiménez, Ana Castro, Antía Fernández-Pombo, Álvaro Ruibal, Pablo Aguiar, Miguel Garrido-Pumar, Antonio Rodríguez-Núñez, Julián Álvarez-Escudero, Rebecca J. Brown, David Araújo-Vilar
Neurogenetics. Author manuscript; available in PMC 2020 Jun 11.
Published in final edited form as: Neurogenetics. 2019 May; 20(2): 73–82. Published online 2019 Mar 23. doi: 10.1007/s10048-019-00574-5
PMCID:
PMC7288395
AbstractArticlePDF–492K
15.
Low-dose Perampanel rescues cortical gamma dysregulation associated with parvalbumin interneuron GluA2 upregulation in epileptic Syngap1+/− mice
Brennan J. Sullivan, Simon Ammanuel, Pavel A. Kipnis, Yoichi Araki, Richard L. Huganir, Shilpa D. Kadam
Biol Psychiatry. Author manuscript; available in PMC 2021 May 1.
Published in final edited form as: Biol Psychiatry. 2020 May 1; 87(9): 829–842. Published online 2020 Jan 10. doi: 10.1016/j.biopsych.2019.12.025
PMCID:
PMC7166168
AbstractArticlePDF–4.1M
16.
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy
Kohei Hamanaka, Eri Imagawa, Eriko Koshimizu, Satoko Miyatake, Jun Tohyama, Takanori Yamagata, Akihiko Miyauchi, Nina Ekhilevitch, Fumio Nakamura, Takeshi Kawashima, Yoshio Goshima, Ahmad Rithauddin Mohamed, Gaik-Siew Ch'ng, Atsushi Fujita, Yoshiteru Azuma, Ken Yasuda, Shintaro Imamura, Mitsuko Nakashima, Hirotomo Saitsu, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Naomichi Matsumoto
Am J Hum Genet. 2020 Apr 2; 106(4): 549–558. Published online 2020 Mar 12. doi: 10.1016/j.ajhg.2020.02.011
PMCID:
PMC7118575
AbstractArticlePDF–1.3M
17.
Comparative genome analysis of Lactobacillus mudanjiangensis, an understudied member of the Lactobacillus plantarum group
Sander Wuyts, Camille Nina Allonsius, Stijn Wittouck, Sofie Thys, Bart Lievens, Stefan Weckx, Luc De Vuyst, Lebeer Sarah
Microb Genom. 2019 Sep; 5(9): e000286. Published online 2019 Aug 1. doi: 10.1099/mgen.0.000286
PMCID:
PMC6807380
AbstractArticlePDF–2.4M
18.
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia
John A. Damiano, Zaid Afawi, Melanie Bahlo, Monika Mauermann, Adel Misk, Todor Arsov, Karen L. Oliver, Hans-Henrik M. Dahl, A. Eliot Shearer, Richard J.H. Smith, Nathan E. Hall, Khalid Mahmood, Richard J. Leventer, Ingrid E. Scheffer, Mikko Muona, Anna-Elina Lehesjoki, Amos D. Korczyn, Harald Herrmann, Samuel F. Berkovic, Michael S. Hildebrand
Hum Mol Genet. 2015 Aug 15; 24(16): 4483–4490. Published online 2015 May 7. doi: 10.1093/hmg/ddv171
PMCID:
PMC6281347
AbstractArticlePDF–557K
19.
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
20.
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

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