Alejandro Horga

Affiliations
  • MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK. a.horga@ucl.ac.uk.
  • Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK. a.horga@ucl.ac.uk.
  • Neuromuscular Diseases Unit, Department of Neurology, Hospital Clínico San Carlos and Instituto de Investigación Sanitaria San Carlos (IdISSC), 28040, Madrid, Spain. a.horga@ucl.ac.uk.

Publications (17)

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

American journal of human genetics
Avec: Andreea Manole , Stephanie Efthymiou , Emer O'Connor , Marisa I Mendes , Matthew Jennings , Reza Maroofian , Indran Davagnanam , Kshitij Mankad , Maria Rodriguez Lopez , Vincenzo Salpietro , Ricardo Harripaul , Lauren Badalato , Jagdeep Walia , Christopher S Francklyn , Alkyoni Athanasiou-Fragkouli , Roisin Sullivan , Sonal Desai , Kristin Baranano , Faisal Zafar , Nuzhat Rana , Muhammed Ilyas , Alejandro Horga , Majdi Kara , Francesca Mattioli , Alice Goldenberg , Helen Griffin , Amelie Piton , Lindsay B Henderson , Benyekhlef Kara , Ayca Dilruba Aslanger , Joost Raaphorst , Rolph Pfundt , Ruben Portier , Marwan Shinawi , Amelia Kirby , Katherine M Christensen , Lu Wang , Rasim O Rosti , Sohail A Paracha , Muhammad T Sarwar , Dagan Jenkins , Auteur inconnu , Jawad Ahmed , Federico A Santoni , Emmanuelle Ranza , Justyna Iwaszkiewicz , Cheryl Cytrynbaum , Rosanna Weksberg , Ingrid M Wentzensen , Maria J Guillen Sacoto , Yue Si , Aida Telegrafi , Marisa V Andrews , Dustin Baldridge , Heinz Gabriel , Julia Mohr , Barbara Oehl-Jaschkowitz , Sylvain Debard , Bruno Senger , Frédéric Fischer , Conny van Ravenwaaij , Annemarie J M Fock , Servi J C Stevens , Jürg Bähler , Amina Nasar , John F Mantovani , Adnan Manzur , Anna Sarkozy , Desirée E C Smith , Gajja S Salomons , Zubair M Ahmed , Shaikh Riazuddin , Saima Riazuddin , Muhammad A Usmani , Annette Seibt , Muhammad Ansar , Stylianos E Antonarakis , John B Vincent , Muhammad Ayub , Mona Grimmel , Anne Marie Jelsig , Tina Duelund Hjortshøj , Helena Gásdal Karstensen , Marybeth Hummel , Tobias B Haack , Yalda Jamshidi , Felix Distelmaier , Rita Horvath , Joseph G Gleeson , Hubert Becker , Jean-Louis Mandel , David A Koolen , Henry Houlden

Réseau de co-auteurs

Henry Houlden 8 collaborations
Andreea Manole 5 collaborations
Enrico Bugiardini 5 collaborations
Mary M Reilly 5 collaborations
Michael G Hanna 5 collaborations
Robert D S Pitceathly 5 collaborations
Arantxa Horga 4 collaborations
Keith Pietropaolo 4 collaborations
Iain P Hargreaves 3 collaborations
James M Polke 3 collaborations
Catherine E Woodward 3 collaborations
Reza Maroofian 3 collaborations
Stephanie Efthymiou 3 collaborations
Bruce Belanger 3 collaborations
Janet Hammond 3 collaborations
Xiao-Jian Zhou 3 collaborations
Alan M Pittman 2 collaborations
Robert W Taylor 2 collaborations
Antonella Spinazzola 2 collaborations
Isabel Pareés 2 collaborations
Yalda Jamshidi 2 collaborations
Alexander M Rossor 2 collaborations
Andrea Cortese 2 collaborations
Zane Jaunmuktane 2 collaborations
Roisin Sullivan 2 collaborations
Rita Horvath 2 collaborations
Stephan Züchner 2 collaborations
None None 2 collaborations
Tobias B Haack 2 collaborations
Amanda Lam 2 collaborations
Costanza Lamperti 2 collaborations
Maureen Montrond 2 collaborations
Alice L Mitchell 1 collaboration
Walied Mowafi 1 collaboration
Emma L Blakely 1 collaboration
Langping He 1 collaboration
Ilaria Dalla Rosa 1 collaboration
Sachit Shah 1 collaboration
Ros Quinlivan 1 collaboration
Ian J Holt 1 collaboration
Maja Kojović 1 collaboration
Eva López-Valdés 1 collaboration
Fernando Alonso-Frech 1 collaboration
Payam Sarraf 1 collaboration
Thomas J O'Brien 1 collaboration
Mona Kamel 1 collaboration
Arman Cakar 1 collaboration
Nour Elkhateeb 1 collaboration
Tracy Lau 1 collaboration
Christopher J Record 1 collaboration
Miriam Essid 1 collaboration
Laila Selim 1 collaboration
Hanene Benrhouma 1 collaboration
Thouraya Ben Younes 1 collaboration
Giovanni Zifarelli 1 collaboration
Alistair T Pagnamenta 1 collaboration
Peter Bauer 1 collaboration
Mukhran Khundadze 1 collaboration
Andrea Mirecki 1 collaboration
Sara Mahmoud Kamel 1 collaboration
Mohamed A Elmonem 1 collaboration
Amaka C Offiah 1 collaboration
Christian A Hübner 1 collaboration
Pinki Munot 1 collaboration
André E X Brown 1 collaboration
Sara Nagy 1 collaboration
L Silva-Hernández 1 collaboration
B Cabal-Paz 1 collaboration
D Mayo-Canalejo 1 collaboration
A Horga 1 collaboration
Stefano Tozza 1 collaboration
Wai Yan Yau 1 collaboration
Salvatore Rossi 1 collaboration
Sarah J Beecroft 1 collaboration
Zoe Dyer 1 collaboration
Gianina Ravenscroft 1 collaboration
Phillipa J Lamont 1 collaboration
Stuart Mossman 1 collaboration
Andrew Chancellor 1 collaboration
Thierry Maisonobe 1 collaboration
Yann Pereon 1 collaboration
Cecile Cauquil 1 collaboration
Silvia Colnaghi 1 collaboration
Giulia Mallucci 1 collaboration
Riccardo Curro 1 collaboration
Pedro J Tomaselli 1 collaboration
Gilbert Thomas-Black 1 collaboration
Matilde Laurá 1 collaboration
Menelaos Pipis 1 collaboration
James Polke 1 collaboration
Diego Kaski 1 collaboration
Patrick F Chinnery 1 collaboration
Wilson Marques 1 collaboration
Cristina Tassorelli 1 collaboration
Grazia Devigili 1 collaboration
Lea Leonardis 1 collaboration
Nick W Wood 1 collaboration
Adolfo Bronstein 1 collaboration
Paola Giunti 1 collaboration
Tanya Stojkovic 1 collaboration
Nigel Laing 1 collaboration
Richard H Roxburgh 1 collaboration
Daniel R Kuritzkes 1 collaboration
John J Kowalczyk 1 collaboration
Kai Lin 1 collaboration
Kristen Perkins 1 collaboration
David García-Azorín 1 collaboration
Susana Martín 1 collaboration
Ángel L Guerrero 1 collaboration
María-Luz Cuadrado 1 collaboration
Emer O'Connor 1 collaboration
Marisa I Mendes 1 collaboration
Matthew Jennings 1 collaboration
Indran Davagnanam 1 collaboration
Kshitij Mankad 1 collaboration
Maria Rodriguez Lopez 1 collaboration
Vincenzo Salpietro 1 collaboration
Ricardo Harripaul 1 collaboration
Lauren Badalato 1 collaboration
Jagdeep Walia 1 collaboration
Sonal Desai 1 collaboration
Kristin Baranano 1 collaboration
Faisal Zafar 1 collaboration
Nuzhat Rana 1 collaboration
Muhammed Ilyas 1 collaboration
Majdi Kara 1 collaboration
Francesca Mattioli 1 collaboration
Alice Goldenberg 1 collaboration
Helen Griffin 1 collaboration
Amelie Piton 1 collaboration
Lindsay B Henderson 1 collaboration
Benyekhlef Kara 1 collaboration
Ayca Dilruba Aslanger 1 collaboration
Joost Raaphorst 1 collaboration
Rolph Pfundt 1 collaboration
Ruben Portier 1 collaboration
Marwan Shinawi 1 collaboration
Amelia Kirby 1 collaboration
Lu Wang 1 collaboration
Rasim O Rosti 1 collaboration
Sohail A Paracha 1 collaboration
Muhammad T Sarwar 1 collaboration
Dagan Jenkins 1 collaboration
Jawad Ahmed 1 collaboration
Federico A Santoni 1 collaboration
Emmanuelle Ranza 1 collaboration
Justyna Iwaszkiewicz 1 collaboration
Cheryl Cytrynbaum 1 collaboration
Rosanna Weksberg 1 collaboration
Ingrid M Wentzensen 1 collaboration
Maria J Guillen Sacoto 1 collaboration
Yue Si 1 collaboration
Aida Telegrafi 1 collaboration
Marisa V Andrews 1 collaboration
Dustin Baldridge 1 collaboration
Heinz Gabriel 1 collaboration
Julia Mohr 1 collaboration
Sylvain Debard 1 collaboration
Bruno Senger 1 collaboration
Frédéric Fischer 1 collaboration
Conny van Ravenwaaij 1 collaboration
Annemarie J M Fock 1 collaboration
Servi J C Stevens 1 collaboration
Jürg Bähler 1 collaboration
Amina Nasar 1 collaboration
John F Mantovani 1 collaboration
Adnan Manzur 1 collaboration
Anna Sarkozy 1 collaboration
Desirée E C Smith 1 collaboration
Gajja S Salomons 1 collaboration
Zubair M Ahmed 1 collaboration
Shaikh Riazuddin 1 collaboration
Saima Riazuddin 1 collaboration
Muhammad A Usmani 1 collaboration
Annette Seibt 1 collaboration
Muhammad Ansar 1 collaboration
John B Vincent 1 collaboration
Muhammad Ayub 1 collaboration
Mona Grimmel 1 collaboration
Anne Marie Jelsig 1 collaboration
Marybeth Hummel 1 collaboration
Felix Distelmaier 1 collaboration
Joseph G Gleeson 1 collaboration
Hubert Becker 1 collaboration
Jean-Louis Mandel 1 collaboration
David A Koolen 1 collaboration
Emanuela Bottani 1 collaboration
Silvia Marchet 1 collaboration
Olivia V Poole 1 collaboration
Cristiane Beninca 1 collaboration
Cathy Woodward 1 collaboration
Iain Hargreaves 1 collaboration
Annapurna Chalasani 1 collaboration
Alessandra Valerio 1 collaboration
Eleonora Lamantea 1 collaboration
Kerrie Venner 1 collaboration
Janice L Holton 1 collaboration
Massimo Zeviani 1 collaboration
Rosaline Quinlivan 1 collaboration
Rauan Kaiyrzhanov 1 collaboration
Sami E M Mohammed 1 collaboration
Ralf A Husain 1 collaboration
Alessia Catania 1 collaboration
Alessandra Torraco 1 collaboration
Ahmad Alahmad 1 collaboration
Marina Dutra-Clarke 1 collaboration
Sabine Grønborg 1 collaboration
Annapurna Sudarsanam 1 collaboration
Julie Vogt 1 collaboration
Filippo Arrigoni 1 collaboration
Julia Baptista 1 collaboration
Shahzad Haider 1 collaboration
René G Feichtinger 1 collaboration
Paolo Bernardi 1 collaboration
Alessandra Zulian 1 collaboration
Mirjana Gusic 1 collaboration
Renkui Bai 1 collaboration
Farah Bibi 1 collaboration
Diego-Perez Rodriguez 1 collaboration
Romina Durigon 1 collaboration
Angela Pyle 1 collaboration
Buthaina Albash 1 collaboration
Carlo Dionisi-Vici 1 collaboration
David Murphy 1 collaboration
Diego Martinelli 1 collaboration
Katrina Allis 1 collaboration
Siegfried Reipert 1 collaboration
Lotte Risom 1 collaboration
Lucia Laugwitz 1 collaboration
Michela Di Nottia 1 collaboration
Robert McFarland 1 collaboration
Laura Vilarinho 1 collaboration
Michael Hanna 1 collaboration
Holger Prokisch 1 collaboration
Johannes A Mayr 1 collaboration
Enrico Silvio Bertini 1 collaboration
Daniele Ghezzi 1 collaboration
Elsebet Østergaard 1 collaboration
Saskia B Wortmann 1 collaboration
Rosalba Carrozzo 1 collaboration
Karin Nowikovsky 1 collaboration
Fion Bremner 1 collaboration
Lois Dankwa 1 collaboration
Adriana P Rebelo 1 collaboration
Sebastian Brandner 1 collaboration
Steven S Scherer 1 collaboration
Chiara Pizzamiglio 1 collaboration
Michael P Lunn 1 collaboration
Stefen Brady 1 collaboration
Fabiola De Marchi 1 collaboration
Lucia Galan 1 collaboration
Jeannine M Heckmann 1 collaboration
Maria J Molnar 1 collaboration
Acary S B Oliveira 1 collaboration
Wladimir B V R Pinto 1 collaboration
Guido Primiano 1 collaboration
Ernestina Santos 1 collaboration
Benedikt Schoser 1 collaboration
Serenella Servidei 1 collaboration
Paulo V Sgobbi Souza 1 collaboration
Vishnu Venugopalan 1 collaboration
Mazen M Dimachkie 1 collaboration
Pedro M Machado 1 collaboration
Adeep Puri 1 collaboration
Lee Winchester 1 collaboration
Courtney V Fletcher 1 collaboration
Alberto Mills 1 collaboration
Ruth M Brown 1 collaboration
Tony Brooks 1 collaboration
Elena Remzova 1 collaboration
Shamima Rahman 1 collaboration
Mary G Sweeney 1 collaboration
Garry K Brown 1 collaboration
Federico Gago 1 collaboration
Matthew J Parton 1 collaboration
Marta Boffito 1 collaboration
Eamon Dolan 1 collaboration
Karishma Singh 1 collaboration
William Holmes 1 collaboration
Steffen Wildum 1 collaboration
Barry Clinch 1 collaboration
Neil Collinson 1 collaboration
Vincent Ukachukwu 1 collaboration
Jason Lickliter 1 collaboration
Laura Ishak 1 collaboration
Dayle James 1 collaboration
Rafael Sivera 1 collaboration
Ana L Pelayo-Negro 1 collaboration
Ivonne Jericó 1 collaboration
Elena Gallardo 1 collaboration
Jose Ignacio Tembl 1 collaboration
Laura Bermejo-Guerrero 1 collaboration
Inmaculada Azorín 1 collaboration
Marta Cordoba 1 collaboration
Elvira Millet 1 collaboration
Juan J Vilchez 1 collaboration
Carmen Espinós 1 collaboration
María Apellániz-Ruiz 1 collaboration
Teresa Sevilla 1 collaboration