Literature DB >> 36066624

Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier?

Giulia Amore1, Veria Vacchiano1,2, Chiara La Morgia1,2, Maria L Valentino1,2, Leonardo Caporali3, Claudio Fiorini3, Danara Ormanbekova3, Fabrizio Salvi4, Anna Bartoletti-Stella5, Sabina Capellari1,3, Rocco Liguori1,2, Valerio Carelli6,7,8.   

Abstract

Entities:  

Year:  2022        PMID: 36066624     DOI: 10.1007/s00415-022-11355-w

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   6.682


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  12 in total

1.  Altered expression of DJ-1 and PINK1 in sporadic ALS and in the SOD1(G93A) ALS mouse model.

Authors:  Sarah Knippenberg; Julia Sipos; Nadine Thau-Habermann; Sonja Körner; Klaus Jan Rath; Reinhard Dengler; Susanne Petri
Journal:  J Neuropathol Exp Neurol       Date:  2013-11       Impact factor: 3.685

2.  Microglia polarization by mitochondrial metabolism modulation: A therapeutic opportunity in neurodegenerative diseases.

Authors:  Arianna Di Stadio; Corrado Angelini
Journal:  Mitochondrion       Date:  2018-09-19       Impact factor: 4.160

3.  Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

Authors:  V Bonifati; C F Rohé; G J Breedveld; E Fabrizio; M De Mari; C Tassorelli; A Tavella; R Marconi; D J Nicholl; H F Chien; E Fincati; G Abbruzzese; P Marini; A De Gaetano; M W Horstink; J A Maat-Kievit; C Sampaio; A Antonini; F Stocchi; P Montagna; V Toni; M Guidi; A Dalla Libera; M Tinazzi; F De Pandis; G Fabbrini; S Goldwurm; A de Klein; E Barbosa; L Lopiano; E Martignoni; P Lamberti; N Vanacore; G Meco; B A Oostra
Journal:  Neurology       Date:  2005-07-12       Impact factor: 9.910

4.  Patient iPSC-Derived Neurons for Disease Modeling of Frontotemporal Dementia with Mutation in CHMP2B.

Authors:  Yu Zhang; Benjamin Schmid; Nanett K Nikolaisen; Mikkel A Rasmussen; Blanca I Aldana; Mikkel Agger; Kirstine Calloe; Tina C Stummann; Hjalte M Larsen; Troels T Nielsen; Jinrong Huang; Fengping Xu; Xin Liu; Lars Bolund; Morten Meyer; Lasse K Bak; Helle S Waagepetersen; Yonglun Luo; Jørgen E Nielsen; Bjørn Holst; Christian Clausen; Poul Hyttel; Kristine K Freude
Journal:  Stem Cell Reports       Date:  2017-02-16       Impact factor: 7.765

5.  Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.

Authors:  Leonardo Caporali; Luisa Iommarini; Chiara La Morgia; Anna Olivieri; Alessandro Achilli; Alessandra Maresca; Maria Lucia Valentino; Mariantonietta Capristo; Francesca Tagliavini; Valentina Del Dotto; Claudia Zanna; Rocco Liguori; Piero Barboni; Michele Carbonelli; Veronica Cocetta; Monica Montopoli; Andrea Martinuzzi; Giovanna Cenacchi; Giuseppe De Michele; Francesco Testa; Anna Nesti; Francesca Simonelli; Anna Maria Porcelli; Antonio Torroni; Valerio Carelli
Journal:  PLoS Genet       Date:  2018-02-14       Impact factor: 5.917

6.  Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.

Authors:  Anna Bartoletti-Stella; Veria Vacchiano; Rocco Liguori; Sabina Capellari; Silvia De Pasqua; Giacomo Mengozzi; Dario De Biase; Ilaria Bartolomei; Patrizia Avoni; Giovanni Rizzo; Piero Parchi; Vincenzo Donadio; Adriano Chiò; Annalisa Pession; Federico Oppi; Fabrizio Salvi
Journal:  J Neurol       Date:  2021-03-26       Impact factor: 4.849

7.  Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy.

Authors:  Alberto Danese; Simone Patergnani; Alessandra Maresca; Camille Peron; Andrea Raimondi; Leonardo Caporali; Saverio Marchi; Chiara La Morgia; Valentina Del Dotto; Claudia Zanna; Angelo Iannielli; Alice Segnali; Ivano Di Meo; Andrea Cavaliere; Magdalena Lebiedzinska-Arciszewska; Mariusz R Wieckowski; Andrea Martinuzzi; Milton N Moraes-Filho; Solange R Salomao; Adriana Berezovsky; Rubens Belfort; Christopher Buser; Fred N Ross-Cisneros; Alfredo A Sadun; Carlo Tacchetti; Vania Broccoli; Carlotta Giorgi; Valeria Tiranti; Valerio Carelli; Paolo Pinton
Journal:  Cell Rep       Date:  2022-07-19       Impact factor: 9.995

Review 8.  The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.

Authors:  Victoria Nesbitt; Patrick J Morrison; Ellen Crushell; Deirdre E Donnelly; Charlotte L Alston; Langping He; Robert McFarland; Robert W Taylor
Journal:  Dev Med Child Neurol       Date:  2012-02-27       Impact factor: 5.449

9.  Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.

Authors:  Carla Giordano; Luisa Iommarini; Luca Giordano; Alessandra Maresca; Annalinda Pisano; Maria Lucia Valentino; Leonardo Caporali; Rocco Liguori; Stefania Deceglie; Marina Roberti; Francesca Fanelli; Flavio Fracasso; Fred N Ross-Cisneros; Pio D'Adamo; Gavin Hudson; Angela Pyle; Patrick Yu-Wai-Man; Patrick F Chinnery; Massimo Zeviani; Solange R Salomao; Adriana Berezovsky; Rubens Belfort; Dora Fix Ventura; Milton Moraes; Milton Moraes Filho; Piero Barboni; Federico Sadun; Annamaria De Negri; Alfredo A Sadun; Andrea Tancredi; Massimiliano Mancini; Giulia d'Amati; Paola Loguercio Polosa; Palmiro Cantatore; Valerio Carelli
Journal:  Brain       Date:  2013-12-24       Impact factor: 13.501

10.  Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

Authors:  Wouter van Rheenen; Rick A A van der Spek; Mark K Bakker; Joke J F A van Vugt; Paul J Hop; Ramona A J Zwamborn; Niek de Klein; Harm-Jan Westra; Olivier B Bakker; Patrick Deelen; Gemma Shireby; Eilis Hannon; Matthieu Moisse; Denis Baird; Restuadi Restuadi; Egor Dolzhenko; Annelot M Dekker; Klara Gawor; Henk-Jan Westeneng; Gijs H P Tazelaar; Kristel R van Eijk; Maarten Kooyman; Ross P Byrne; Mark Doherty; Mark Heverin; Ahmad Al Khleifat; Alfredo Iacoangeli; Aleksey Shatunov; Nicola Ticozzi; Johnathan Cooper-Knock; Bradley N Smith; Marta Gromicho; Siddharthan Chandran; Suvankar Pal; Karen E Morrison; Pamela J Shaw; John Hardy; Richard W Orrell; Michael Sendtner; Thomas Meyer; Nazli Başak; Anneke J van der Kooi; Antonia Ratti; Isabella Fogh; Cinzia Gellera; Giuseppe Lauria; Stefania Corti; Cristina Cereda; Daisy Sproviero; Sandra D'Alfonso; Gianni Sorarù; Gabriele Siciliano; Massimiliano Filosto; Alessandro Padovani; Adriano Chiò; Andrea Calvo; Cristina Moglia; Maura Brunetti; Antonio Canosa; Maurizio Grassano; Ettore Beghi; Elisabetta Pupillo; Giancarlo Logroscino; Beatrice Nefussy; Alma Osmanovic; Angelica Nordin; Yossef Lerner; Michal Zabari; Marc Gotkine; Robert H Baloh; Shaughn Bell; Patrick Vourc'h; Philippe Corcia; Philippe Couratier; Stéphanie Millecamps; Vincent Meininger; François Salachas; Jesus S Mora Pardina; Abdelilah Assialioui; Ricardo Rojas-García; Patrick A Dion; Jay P Ross; Albert C Ludolph; Jochen H Weishaupt; David Brenner; Axel Freischmidt; Gilbert Bensimon; Alexis Brice; Alexandra Durr; Christine A M Payan; Safa Saker-Delye; Nicholas W Wood; Simon Topp; Rosa Rademakers; Lukas Tittmann; Wolfgang Lieb; Andre Franke; Stephan Ripke; Alice Braun; Julia Kraft; David C Whiteman; Catherine M Olsen; Andre G Uitterlinden; Albert Hofman; Marcella Rietschel; Sven Cichon; Markus M Nöthen; Philippe Amouyel; Bryan J Traynor; Andrew B Singleton; Miguel Mitne Neto; Ruben J Cauchi; Roel A Ophoff; Martina Wiedau-Pazos; Catherine Lomen-Hoerth; Vivianna M van Deerlin; Julian Grosskreutz; Annekathrin Roediger; Nayana Gaur; Alexander Jörk; Tabea Barthel; Erik Theele; Benjamin Ilse; Beatrice Stubendorff; Otto W Witte; Robert Steinbach; Christian A Hübner; Caroline Graff; Lev Brylev; Vera Fominykh; Vera Demeshonok; Anastasia Ataulina; Boris Rogelj; Blaž Koritnik; Janez Zidar; Metka Ravnik-Glavač; Damjan Glavač; Zorica Stević; Vivian Drory; Monica Povedano; Ian P Blair; Matthew C Kiernan; Beben Benyamin; Robert D Henderson; Sarah Furlong; Susan Mathers; Pamela A McCombe; Merrilee Needham; Shyuan T Ngo; Garth A Nicholson; Roger Pamphlett; Dominic B Rowe; Frederik J Steyn; Kelly L Williams; Karen A Mather; Perminder S Sachdev; Anjali K Henders; Leanne Wallace; Mamede de Carvalho; Susana Pinto; Susanne Petri; Markus Weber; Guy A Rouleau; Vincenzo Silani; Charles J Curtis; Gerome Breen; Jonathan D Glass; Robert H Brown; John E Landers; Christopher E Shaw; Peter M Andersen; Ewout J N Groen; Michael A van Es; R Jeroen Pasterkamp; Dongsheng Fan; Fleur C Garton; Allan F McRae; George Davey Smith; Tom R Gaunt; Michael A Eberle; Jonathan Mill; Russell L McLaughlin; Orla Hardiman; Kevin P Kenna; Naomi R Wray; Ellen Tsai; Heiko Runz; Lude Franke; Ammar Al-Chalabi; Philip Van Damme; Leonard H van den Berg; Jan H Veldink
Journal:  Nat Genet       Date:  2021-12-06       Impact factor: 38.330

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