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Items: 1 to 20 of 49

1.
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
ArticlePDF–1.2M
2.
Lysobacter changpingensis sp. nov., a novel species of the genus Lysobacter isolated from a rhizosphere soil of strawberry in China
Bang-Yan Niu, Dong-Jun Ren, Fang-Bo Zhang, Hong-Tu Zhu, Hai-Lei Wei, Ming-Chao Ma, Miao Gao
Folia Microbiol (Praha) 2023; 68(6): 991–998. Published online 2023 Jun 2. doi: 10.1007/s12223-023-01058-8
PMCID:
PMC10689546
ArticlePDF–1.5M
3.
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
Lea Hentrich, Mered Parnes, Timothy Edward Lotze, Rohini Coorg, Tom J. de Koning, Kha M. Nguyen, Calvin K. Yip, Heinz Jungbluth, Anne Koy, Hormos Salimi Dafsari
Genes (Basel) 2023 Oct; 14(10): 1860. Published online 2023 Sep 25. doi: 10.3390/genes14101860
PMCID:
PMC10606070
ArticlePDF–4.4M
4.
Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes
Barbara Castellotti, Laura Canafoglia, Elena Freri, Maria Tappatà, Giuliana Messina, Stefania Magri, Jacopo C. DiFrancesco, Martina Fanella, Carlo Di Bonaventura, Alessandra Morano, Tiziana Granata, Cinzia Gellera, Silvana Franceschetti, Roberto Michelucci
Epilepsia Open. 2023 Jun; 8(2): 645–650. Published online 2023 Feb 9. doi: 10.1002/epi4.12697
PMCID:
PMC10235579
ArticlePDF–3.6M
5.
Early Treatment with Metformin Improves Neurological Outcomes in Lafora Disease
Daniel F. Burgos, María Machío-Castello, Nerea Iglesias-Cabeza, Beatriz G. Giráldez, Juan González-Fernández, Gema Sánchez-Martín, Marina P. Sánchez, José M. Serratosa
Neurotherapeutics. 2023 Jan; 20(1): 230–244. Published online 2022 Oct 27. doi: 10.1007/s13311-022-01304-w
PMCID:
PMC10119355
ArticlePDF–2.1M
6.
EPILEPSIES MYOCLONIQUES PROGRESSIVES AU SERVICE DE NEUROLOGIE DU CENTRE HOSPITALIER UNIVERSITAIRE DU POINT “G”
M E Dembélé, L Cissé, S Diarra, A Yalcouyé, A Taméga, A Bocoum, A B Maïga, S H Diallo, T Coulibaly, S Diallo, A Simaga, C Grunseich, M Kéita, MB Coulibaly, KH Fischbeck, Y Maiga, C O Guinto, G Landouré
Mali Med. Author manuscript; available in PMC 2023 Mar 20.French.
Published in final edited form as: Mali Med. 2022 Jul 8; 37(2): 17–21.
PMCID:
PMC10026847
ArticlePDF–350K
7.
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center
Corina-Marcela Rus, Thomas Weissensteiner, Catarina Pereira, Iuliana Susnea, Bright D. Danquah, Galina Morales Torres, Maria Eugenia Rocha, Claudia Cozma, Deepa Saravanakumar, Sumanth Mannepalli, Krishna K. Kandaswamy, Sebastiano Di Bucchianico, Ralf Zimmermann, Arndt Rolfs, Peter Bauer, Christian Beetz
Orphanet J Rare Dis. 2022; 17: 179. Published online 2022 May 3. doi: 10.1186/s13023-022-02288-8
PMCID:
PMC9066917
ArticlePDF–1.2M
8.
Genotype–Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review
Burcu Atasu, Ayse Nur Ozdag Acarlı, Basar Bilgic, Betül Baykan, Erol Demir, Yasemin Ozluk, Aydin Turkmen, Ann-Kathrin Hauser, Gamze Guven, Hasmet Hanagasi, Hakan Gurvit, Murat Emre, Thomas Gasser, Ebba Lohmann
BMC Neurol. 2022; 22: 122. Published online 2022 Mar 28. doi: 10.1186/s12883-022-02628-y
PMCID:
PMC8962058
ArticlePDF–1.3M
9.
Adult‐onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS
Seondeuk Kim, Man Jin Kim, Hyoshin Son, Sungeun Hwang, Mi‐Kyoung Kang, Kon Chu, Sang Kun Lee, Jangsup Moon
Ann Clin Transl Neurol. 2021 Dec; 8(12): 2319–2326. Published online 2021 Nov 27. doi: 10.1002/acn3.51483
PMCID:
PMC8670320
ArticlePDF–1.1M
10.
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
ArticlePDF–395K
11.
Astrocytic glycogen accumulation drives the pathophysiology of neurodegeneration in Lafora disease
Jordi Duran, Arnau Hervera, Kia H Markussen, Olga Varea, Iliana López-Soldado, Ramon C Sun, Jose Antonio del Río, Matthew S Gentry, Joan J Guinovart
Brain. 2021 Aug; 144(8): 2349–2360. Published online 2021 Apr 2. doi: 10.1093/brain/awab110
PMCID:
PMC8418345
ArticlePDF–1.0M
12.
Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy
Rebecca Herzog, Yorck Hellenbroich, Norbert Brüggemann, Katja Lohmann, Mona Grimmel, Tobias B. Haack, Sarah von Spiczak, Alexander Münchau
Ann Clin Transl Neurol. 2021 Jul; 8(7): 1524–1527. Published online 2021 Jun 6. doi: 10.1002/acn3.51403
PMCID:
PMC8283161
ArticlePDF–254K
13.
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
ArticlePDF–516K
14.
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review
Carlotta Spagnoli, Carlo Fusco, Antonio Percesepe, Vincenzo Leuzzi, Francesco Pisani
Int J Mol Sci. 2021 Apr; 22(8): 4202. Published online 2021 Apr 18. doi: 10.3390/ijms22084202
PMCID:
PMC8072943
ArticlePDF–659K
15.
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
ArticlePDF–1.6M
16.
Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy
Laura Licchetta, Lorenzo Ferri, Chiara La Morgia, Corrado Zenesini, Leonardo Caporali, Maria Lucia Valentino, Raffaella Minardi, Daniela Fulitano, Lidia Di Vito, Barbara Mostacci, Lara Alvisi, Patrizia Avoni, Rocco Liguori, Paolo Tinuper, Francesca Bisulli, Valerio Carelli
Ann Clin Transl Neurol. 2021 Mar; 8(3): 704–710. Published online 2021 Jan 21. doi: 10.1002/acn3.51259
PMCID:
PMC7951109
ArticlePDF–598K
17.
Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1
Xiaoxu Han, Shijing Wu, Min Wang, Hui Li, Yan Huang, Ruifang Sui
Mol Genet Genomic Med. 2020 Aug; 8(8): e1316. Published online 2020 May 26. doi: 10.1002/mgg3.1316
PMCID:
PMC7434748
ArticlePDF–961K
18.
Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation
Antonietta Coppola, Laura Hernandez-Hernandez, Simona Balestrini, S. Krithika, Nicholas Moran, Blake Hale, Carla Cordivari, Sanjay M. Sisodiya
J Neurol. 2020; 267(8): 2221–2227. Published online 2020 Apr 9. doi: 10.1007/s00415-020-09821-4
PMCID:
PMC7359151
ArticlePDF–1.5M
19.
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
ArticlePDF–1.3M
20.
Interferon-inducible cytoplasmic lncLrrc55-AS promotes antiviral innate responses by strengthening IRF3 phosphorylation
Yumei Zhou, Mengxuan Li, Yiquan Xue, Zhiqing Li, Weitao Wen, Xingguang Liu, Yuanwu Ma, Lianfeng Zhang, Zhongyang Shen, Xuetao Cao
Cell Res. 2019 Aug; 29(8): 641–654. Published online 2019 Jun 18. doi: 10.1038/s41422-019-0193-0
PMCID:
PMC6796909
ArticlePDF–4.6M

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