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Items: 1 to 20 of 45

1.
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
ArticlePubReaderPDF–3.6MCite
2.
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
ArticlePubReaderPDF–350KCite
3.
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
ArticlePubReaderPDF–1.2MCite
4.
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
ArticlePubReaderPDF–1.3MCite
5.
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
ArticlePubReaderPDF–1.1MCite
6.
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
ArticlePubReaderPDF–395KCite
7.
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
ArticlePubReaderPDF–1.0MCite
8.
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
ArticlePubReaderPDF–254KCite
9.
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
ArticlePubReaderPDF–516KCite
10.
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
ArticlePubReaderPDF–659KCite
11.
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
ArticlePubReaderPDF–1.6MCite
12.
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
ArticlePubReaderPDF–598KCite
13.
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
ArticlePubReaderPDF–961KCite
14.
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
ArticlePubReaderPDF–1.5MCite
15.
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
ArticlePubReaderPDF–1.3MCite
16.
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
ArticlePubReaderPDF–4.6MCite
17.
Myoclonic Epilepsy and Ragged Red Fibers (MERRF) Syndrome: Selective Vulnerability of CNS Neurons Does Not Correlate with the Level of Mitochondrial tRNAlys Mutation in Individual Neuronal Isolates
Li Zhou, Anne Chomyn, Giuseppe Attardi, Carol A. Miller
J Neurosci. 1997 Oct 15; 17(20): 7746–7753. doi: 10.1523/JNEUROSCI.17-20-07746.1997
PMCID:
PMC6793887
ArticlePubReaderPDF–1.3MCite
18.
Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report
Qi Huang, Lu Yu, Meigang Ma, Hengchang Qi, Yuan Wu
Medicine (Baltimore) 2019 Feb; 98(8): e14698. Published online 2019 Feb 22. doi: 10.1097/MD.0000000000014698
PMCID:
PMC6408085
ArticlePubReaderPDF–989KCite
19.
Possible Mechanisms by which Stefin B could Regulate Proteostasis and Oxidative Stress
Eva Žerovnik
Cells. 2019 Jan; 8(1): 70. Published online 2019 Jan 18. doi: 10.3390/cells8010070
PMCID:
PMC6357131
ArticlePubReaderPDF–1.7MCite
20.
A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report
Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Krasnenko, Kirill Yurievich Tsukanov, Olesya Igorevna Klimchuk, Olga Borisovna Kondakova, Anna Nikolaevna Larionova, Tatyana Timofeevna Batysheva, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky
BMC Med Genet. 2018; 19: 151. Published online 2018 Aug 25. doi: 10.1186/s12881-018-0669-7
PMCID:
PMC6109285
ArticlePubReaderPDF–1.9MCite

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