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Items: 1 to 20 of 278

1.
Dominant optic atrophy
Guy Lenaers, Christian Hamel, Cécile Delettre, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Dan Milea
Orphanet J Rare Dis. 2012; 7: 46. Published online 2012 Jul 9. doi: 10.1186/1750-1172-7-46
PMCID:
PMC3526509
AbstractArticlePDF–946K
2.
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene
H Eiberg, L Hansen, B Kjer, T Hansen, O Pedersen, M Bille, T Rosenberg, L Tranebjærg
J Med Genet. 2006 May; 43(5): 435–440. doi: 10.1136/jmg.2005.034892
PMCID:
PMC2649014
AbstractArticlePDF–646K
3.
Antibody Specificities and Effect of Meningococcal Carriage in Icelandic Teenagers Receiving the Norwegian Serogroup B Outer Membrane Vesicle Vaccine
Elisabeth Wedege, Betsy Kuipers, Karin Bolstad, Harry van Dijken, L. Oddvar Frøholm, Clementien Vermont, Dominique A. Caugant, Germie van den Dobbelsteen
Infect Immun. 2003 Jul; 71(7): 3775–3781. doi: 10.1128/IAI.71.7.3775-3781.2003
PMCID:
PMC162037
AbstractArticlePDF–93K
4.
Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders
Ranita Ghosh Dastidar, Saradindu Banerjee, Piyush Behari Lal, Somasish Ghosh Dastidar
Mol Neurobiol. 2024; 61(7): 3788–3808. Published online 2023 Nov 28. doi: 10.1007/s12035-023-03768-z
PMCID:
PMC11236935
AbstractArticlePDF–4.7M
5.
Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy
Cansu de Muijnck, Jacoline B. ten Brink, Hugoline G. de Haan, Richard J. Rodenburg, Nicole I. Wolf, Arthur A. Bergen, Camiel J. F. Boon, Maria M. van Genderen
Genes (Basel) 2024 May; 15(5): 530. Published online 2024 Apr 24. doi: 10.3390/genes15050530
PMCID:
PMC11121614
AbstractArticlePDF–1.4M
6.
Electroretinographic oscillatory potentials in Leber hereditary optic neuropathy
Mirella T. S. Barboni, Maja Sustar Habjan, Sanja Petrovic Pajic, Marko Hawlina
Doc Ophthalmol. 2024; 148(3): 133–143. Published online 2024 Mar 7. doi: 10.1007/s10633-024-09968-9
PMCID:
PMC11096212
AbstractArticlePDF–833K
7.
Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies
Ekaterina Tolmacheva, Anna S. Bolshakova, Jekaterina Shubina, Margarita S. Rogacheva, Alexey N. Ekimov, Julia L. Podurovskaya, Artem A. Burov, Denis V. Rebrikov, Vladimir G. Bychenko, Dmitry Yu. Trofimov, Gennady T. Sukhikh
BMC Med Genomics. 2024; 17: 130. Published online 2024 May 14. doi: 10.1186/s12920-024-01857-z
PMCID:
PMC11094910
AbstractArticlePDF–1.6M
8.
Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort
Megan M. Shen, Christian Rummey, David R. Lynch
Ann Clin Transl Neurol. 2024 May; 11(5): 1110–1121. Published online 2024 Feb 23. doi: 10.1002/acn3.52027
PMCID:
PMC11093247
AbstractArticlePDF–1.2M
9.
Mitochondrial gene replacement in human pluripotent stem cell-derived neural progenitors
S Iyer, E Xiao, K Alsayegh, N Eroshenko, MJ Riggs, JP Bennett, Jr, RR Rao
Gene Ther. Author manuscript; available in PMC 2024 May 6.
Published in final edited form as: Gene Ther. 2012 May; 19(5): 469–475. Published online 2011 Sep 15. doi: 10.1038/gt.2011.134
PMCID:
PMC11071659
AbstractArticlePDF–1.3M
10.
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics
Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha S Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D Williamson, Emily Fleming, Dihong Zhou, Jennifer L Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A Patten, Emily Farrow, Juan S Bonifacino
Brain. 2024 May; 147(5): 1751–1767. Published online 2023 Dec 21. doi: 10.1093/brain/awad427
PMCID:
PMC11068110
AbstractArticlePDF–2.0M
11.
Loss and recovery of myocardial mitochondria in mice under different tail suspension time: Apoptosis and mitochondrial fission, fusion and autophagy
Zhe Wang, Xing‐Chen Wang, Ya‐Fei Chen, Chuan‐Li Wang, Le Chen, Ming‐Yue Jiang, Xi‐Wei Liu, Xiao‐Xuan Zhang, Yong‐Zhen Feng, Jin‐Hui Xu
Exp Physiol. 2023 Sep; 108(9): 1189–1202. Published online 2023 Aug 11. doi: 10.1113/EP090518
PMCID:
PMC10988507
AbstractArticlePDF–3.6M
12.
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial
Patrick Yu-Wai-Man, Valerio Carelli, Nancy J. Newman, Magda Joana Silva, Aki Linden, Gregory Van Stavern, Jacek P. Szaflik, Rudrani Banik, Wojciech Lubiński, Berthold Pemp, Yaping Joyce Liao, Prem S. Subramanian, Marta Misiuk-Hojło, Steven Newman, Lorena Castillo, Jarosław Kocięcki, Marc H. Levin, Francisco Jose Muñoz-Negrete, Ali Yagan, Sylvia Cherninkova, David Katz, Audrey Meunier, Marcela Votruba, Magdalena Korwin, Jacek Dziedziak, Neringa Jurkutė, Joshua P. Harvey, Chiara La Morgia, Claudia Priglinger, Xavier Llòria, Livia Tomasso, Thomas Klopstock, LEROS Study Group
Cell Rep Med. 2024 Mar 19; 5(3): 101437. Published online 2024 Feb 29. doi: 10.1016/j.xcrm.2024.101437
PMCID:
PMC10982982
AbstractArticlePDF–3.8M
13.
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy
Andrea Gangfuß, Philipp Rating, Tomas Ferreira, Andreas Hentschel, Adela Della Marina, Heike Kölbel, Albert Sickmann, Angela Abicht, Florian Kraft, Tobias Ruck, Johann Böhm, Anne Schänzer, Ulrike Schara-Schmidt, Teresa M. Neuhann, Rita Horvath, Andreas Roos
J Neuromuscul Dis. 2024; 11(2): 485–491. Prepublished online 2024 Jan 8. Published online 2024 Mar 5. doi: 10.3233/JND-230181
PMCID:
PMC10977349
AbstractArticlePDF–405K
14.
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk
Karen L. Oliver, Marina Trivisano, Simone A. Mandelstam, Angela De Dominicis, David I. Francis, Timothy E. Green, Alison M. Muir, Apoorva Chowdhary, Christoph Hertzberg, Klaus Goldhahn, Julia Metreau, Christine Prager, Jason Pinner, Michael Cardamone, Kenneth A. Myers, Richard J. Leventer, Gaetan Lesca, Melanie Bahlo, Michael S. Hildebrand, Heather C. Mefford, Angela M. Kaindl, Nicola Specchio, Ingrid E. Scheffer
Epilepsia. 2023 May; 64(5): 1351–1367. Published online 2023 Mar 11. doi: 10.1111/epi.17542
PMCID:
PMC10952634
AbstractArticlePDF–6.2M
15.
Mitochondrial DNA mutations in Korean patients with Leber’s hereditary optic neuropathy
Hee Kyung Yang, Moon-Woo Seong, Jeong-Min Hwang
Sci Rep. 2024; 14: 5702. Published online 2024 Mar 8. doi: 10.1038/s41598-024-56215-x
PMCID:
PMC10923793
AbstractArticlePDF–876K
16.
Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5
Camilla Aurora Franchino, Martina Brughera, Valentina Baderna, Daniele De Ritis, Alessandra Rocco, Sara Seneca, Luc Regal, Paola Podini, Maurizio D’Antonio, Camilo Toro, Angelo Quattrini, Emmanuel Scalais, Francesca Maltecca
Brain. 2024 Mar; 147(3): 1043–1056. Published online 2023 Oct 7. doi: 10.1093/brain/awad340
PMCID:
PMC10907083
AbstractArticlePDF–1.1M
17.
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy
Serena Jasmine Aleo, Valentina Del Dotto, Martina Romagnoli, Claudio Fiorini, Giada Capirossi, Camille Peron, Alessandra Maresca, Leonardo Caporali, Mariantonietta Capristo, Concetta Valentina Tropeano, Claudia Zanna, Fred N. Ross-Cisneros, Alfredo A. Sadun, Maria Gemma Pignataro, Carla Giordano, Chiara Fasano, Andrea Cavaliere, Anna Maria Porcelli, Gaia Tioli, Francesco Musiani, Alessia Catania, Costanza Lamperti, Stefania Bianchi Marzoli, Annamaria De Negri, Maria Lucia Cascavilla, Marco Battista, Piero Barboni, Michele Carbonelli, Giulia Amore, Chiara La Morgia, Dmitrii Smirnov, Catalina Vasilescu, Aiman Farzeen, Beryll Blickhaeuser, Holger Prokisch, Claudia Priglinger, Bettina Livonius, Claudia B. Catarino, Thomas Klopstock, Valeria Tiranti, Valerio Carelli, Anna Maria Ghelli
Cell Rep Med. 2024 Feb 20; 5(2): 101383. Published online 2024 Jan 24. doi: 10.1016/j.xcrm.2023.101383
PMCID:
PMC10897523
AbstractArticlePDF–5.0M
18.
Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic
Michael James Gilhooley, Naz Raoof, Patrick Yu-Wai-Man, Mariya Moosajee
Genes (Basel) 2024 Feb; 15(2): 188. Published online 2024 Jan 30. doi: 10.3390/genes15020188
PMCID:
PMC10888158
AbstractArticlePDF–1.2M
19.
Structural mechanism of mitochondrial membrane remodelling by human OPA1
Alexander von der Malsburg, Gracie M. Sapp, Kelly E. Zuccaro, Alexander von Appen, Frank R. Moss, III, Raghav Kalia, Jeremy A. Bennett, Luciano A. Abriata, Matteo Dal Peraro, Martin van der Laan, Adam Frost, Halil Aydin
Nature. Author manuscript; available in PMC 2024 Feb 23.
Published in final edited form as: Nature. 2023 Aug; 620(7976): 1101–1108. Published online 2023 Aug 23. doi: 10.1038/s41586-023-06441-6
PMCID:
PMC10875962
AbstractArticlePDF–6.0M
20.
An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment
Francesca Di Candia, Valentina Di Iorio, Nadia Tinto, Riccardo Bonfanti, Claudio Iovino, Francesco Maria Rosanio, Ludovica Fedi, Fernanda Iafusco, Francesca Arrigoni, Rita Malesci, Francesca Simonelli, Andrea Rigamonti, Adriana Franzese, Enza Mozzillo
Ital J Pediatr. 2023; 49: 158. Published online 2023 Nov 30. doi: 10.1186/s13052-023-01553-1
PMCID:
PMC10691017
AbstractArticlePDF–1.0M

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