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Select item 106824761.

TNF and IL6/Jak2 signaling pathways are the main contributors of the glia-derived neuroinflammation present in Lafora disease, a fatal form of progressive myoclonus epilepsy

Teresa Rubio, Rosa Viana, Mireia Moreno-Estellés, Ángela Campos-Rodríguez, Pascual Sanz

Neurobiol Dis. Author manuscript; available in PMC 2023 Nov 28.

Published in final edited form as: Neurobiol Dis. 2023 Jan; 176: 105964. Published online 2022 Dec 14. doi: 10.1016/j.nbd.2022.105964

PMCID:: PMC10682476

Abstract Article PDF–2.3M

Select item 105192062.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Elisa Calì, Sheng-Jia Lin, Clarissa Rocca, Yavuz Sahin, Aisha Al Shamsi, Salima El Chehadeh, Myriam Chaabouni, Kshitij Mankad, Evangelia Galanaki, Stephanie Efthymiou, Sniya Sudhakar, Alkyoni Athanasiou-Fragkouli, Tamer Çelik, Nejat Narlı, Sebastiano Bianca, David Murphy, Francisco Martins De Carvalho Moreira, SYNaPS Study Group, Andrea Accogli, Cassidy Petree, Kevin Huang, Kamel Monastiri, Masoud Edizadeh, Rosaria Nardello, Marzia Ognibene, Patrizia De Marco, Martino Ruggieri, Federico Zara, Pasquale Striano, Yavuz Şahin, Lihadh Al-Gazali, Marie Therese Abi Warde, Benedicte Gerard, Giovanni Zifarelli, Christian Beetz, Sara Fortuna, Miguel Soler, Enza Maria Valente, Gaurav Varshney, Reza Maroofian, Vincenzo Salpietro, Henry Houlden

Genet Med. 2022 Oct; 24(10): 2194–2203. doi: 10.1016/j.gim.2022.07.013

PMCID:: PMC10519206

Abstract Article PDF–1.3M

Select item 96559923.

Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Derived hiPSCs

Valeria Lucchino, Luana Scaramuzzino, Stefania Scalise, Michela Lo Conte, Clara Zannino, Giorgia Lucia Benedetto, Umberto Aguglia, Edoardo Ferlazzo, Giovanni Cuda, Elvira Immacolata Parrotta

Cells. 2022 Nov; 11(21): 3491. Published online 2022 Nov 4. doi: 10.3390/cells11213491

PMCID:: PMC9655992

Abstract Article PDF–2.1M

Select item 94631994.

Pharmacological Modulation of Glutamatergic and Neuroinflammatory Pathways in a Lafora Disease Mouse Model

Belén Mollá, Miguel Heredia, Ángela Campos, Pascual Sanz

Mol Neurobiol. 2022; 59(10): 6018–6032. Published online 2022 Jul 14. doi: 10.1007/s12035-022-02956-7

PMCID:: PMC9463199

Abstract Article PDF–1.9M

Select item 84780435.

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

Abstract Article PDF–395K

Select item 83659966.

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

Abstract Article PDF–1.0M

Select item 81664627.

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

Abstract Article PDF–516K

Select item 79511098.

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

Abstract Article PDF–598K

Select item 75205409.

Neuroinflammation and progressive myoclonus epilepsies: from basic science to therapeutic opportunities

Pascual Sanz, José M. Serratosa

Expert Rev Mol Med. 2020; 22: e4. Published online 2020 Sep 17. doi: 10.1017/erm.2020.5

PMCID:: PMC7520540

Abstract Article PDF–253K

Select item 726277410.

Discovering candidate imprinted genes and imprinting control regions in the human genome

Minou Bina

BMC Genomics. 2020; 21: 378. Published online 2020 May 31. doi: 10.1186/s12864-020-6688-8

PMCID:: PMC7262774

Abstract Article PDF–4.3M

Select item 640808511.

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

Abstract Article PDF–989K

Select item 598660912.

Degradation of altered mitochondria by autophagy is impaired in Lafora disease

Marcos Lahuerta, Carmen Aguado, Pablo Sánchez-Martín, Pascual Sanz, Erwin Knecht

FEBS J. Author manuscript; available in PMC 2019 Jun 1.

Published in final edited form as: FEBS J. 2018 Jun; 285(11): 2071–2090. Published online 2018 Apr 23. doi: 10.1111/febs.14468

PMCID:: PMC5986609

Abstract Article PDF–2.1M

Select item 595183013.

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

Abstract Article PDF–2.4M

Select item 565800814.

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

Abstract Article PDF–105K

Select item 554039515.

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

Abstract Article PDF–9.4M

Select item 511004516.

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study

Massimiliano Filosto, Massimo Aureli, Barbara Castellotti, Fabrizio Rinaldi, Domitilla Schiumarini, Manuela Valsecchi, Susanna Lualdi, Raffaella Mazzotti, Viviana Pensato, Silvia Rota, Cinzia Gellera, Mirella Filocamo, Alessandro Padovani

Eur J Hum Genet. 2016 Nov; 24(11): 1578–1583. Published online 2016 Mar 30. doi: 10.1038/ejhg.2016.28

PMCID:: PMC5110045

Abstract Article PDF–1.1M

Select item 492709417.

Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb^-/- Microglia

Inken Körber, Shintaro Katayama, Elisabet Einarsdottir, Kaarel Krjutškov, Paula Hakala, Juha Kere, Anna-Elina Lehesjoki, Tarja Joensuu

PLoS One. 2016; 11(6): e0158195. Published online 2016 Jun 29. doi: 10.1371/journal.pone.0158195

PMCID:: PMC4927094

Abstract Article PDF–2.5M

Select item 475404318.

Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations

Elena Perli, Annarita Fiorillo, Carla Giordano, Annalinda Pisano, Arianna Montanari, Paola Grazioli, Antonio F. Campese, Patrizio Di Micco, Helen A. Tuppen, Ilaria Genovese, Elena Poser, Carmela Preziuso, Robert W. Taylor, Veronica Morea, Gianni Colotti, Giulia d'Amati

Hum Mol Genet. 2016 Mar 1; 25(5): 903–915. Published online 2015 Dec 31. doi: 10.1093/hmg/ddv619

PMCID:: PMC4754043

Abstract Article PDF–1.0M

Select item 452082119.

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

Laura Canafoglia, Isabella Gilioli, Federica Invernizzi, Vito Sofia, Valeria Fugnanesi, Michela Morbin, Luisa Chiapparini, Tiziana Granata, Simona Binelli, Vidmer Scaioli, Barbara Garavaglia, Nardo Nardocci, Samuel F. Berkovic, Silvana Franceschetti

Neurology. 2015 Jul 28; 85(4): 316–324. doi: 10.1212/WNL.0000000000001784

PMCID:: PMC4520821

Abstract Article PDF–1.2M

Select item 449072820.

Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy

Anca Florian, Anna Ludwig, Bianca Stubbe-Dräger, Matthias Boentert, Peter Young, Johannes Waltenberger, Sabine Rösch, Udo Sechtem, Ali Yilmaz

J Cardiovasc Magn Reson. 2015; 17(1): 40. Published online 2015 May 22. doi: 10.1186/s12968-015-0145-x

PMCID:: PMC4490728

Abstract Article PDF–1.6M

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