Orla Hardiman
AuthID: R-00F-G00
1
TITLE: Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival Full Text
AUTHORS: Adey, Brett N.; Cooper Knock, Johnathan; Al Khleifat, Ahmad; Fogh, Isabella; van Damme, Philip; Corcia, Philippe; Couratier, Philippe; Hardiman, Orla; McLaughlin, Russell; Gotkine, Marc; Drory, Vivian; Silani, Vincenzo; Ticozzi, Nicola; Veldink, Jan H.; van den Berg, Leonard H.; de Carvalho, Mamede; Pinto, Susana; Pardina, Jesus S. Mora S.; Panades, Monica Povedano; Andersen, Peter M.; ...More
PUBLISHED: 2023, SOURCE: FRONTIERS IN CELLULAR NEUROSCIENCE, VOLUME: 17
AUTHORS: Adey, Brett N.; Cooper Knock, Johnathan; Al Khleifat, Ahmad; Fogh, Isabella; van Damme, Philip; Corcia, Philippe; Couratier, Philippe; Hardiman, Orla; McLaughlin, Russell; Gotkine, Marc; Drory, Vivian; Silani, Vincenzo; Ticozzi, Nicola; Veldink, Jan H.; van den Berg, Leonard H.; de Carvalho, Mamede; Pinto, Susana; Pardina, Jesus S. Mora S.; Panades, Monica Povedano; Andersen, Peter M.; ...More
PUBLISHED: 2023, SOURCE: FRONTIERS IN CELLULAR NEUROSCIENCE, VOLUME: 17
INDEXED IN: Scopus WOS
2
TITLE: Genetic variability in sporadic amyotrophic lateral sclerosis Full Text
AUTHORS: Van Daele, Sien Hilde; Moisse, Matthieu; van Vugt, Joke J. F. A.; Zwamborn, Ramona A. J.; van der Spek, Rick; van Rheenen, Wouter; Van Eijk, Kristel; Kenna, Kevin; Corcia, Philippe; Vourc'h, Patrick; Couratier, Philippe; Hardiman, Orla; McLaughin, Russell; Gotkine, Marc; Drory, Vivian; Ticozzi, Nicola; Silani, Vincenzo; Ratti, Antonia; de Carvalho, Mamede; Mora Pardina, Jesus S.; ...More
PUBLISHED: 2023, SOURCE: BRAIN, VOLUME: 146, ISSUE: 9
AUTHORS: Van Daele, Sien Hilde; Moisse, Matthieu; van Vugt, Joke J. F. A.; Zwamborn, Ramona A. J.; van der Spek, Rick; van Rheenen, Wouter; Van Eijk, Kristel; Kenna, Kevin; Corcia, Philippe; Vourc'h, Patrick; Couratier, Philippe; Hardiman, Orla; McLaughin, Russell; Gotkine, Marc; Drory, Vivian; Ticozzi, Nicola; Silani, Vincenzo; Ratti, Antonia; de Carvalho, Mamede; Mora Pardina, Jesus S.; ...More
PUBLISHED: 2023, SOURCE: BRAIN, VOLUME: 146, ISSUE: 9
INDEXED IN: Scopus WOS
3
TITLE: Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis
AUTHORS: Al Khleifat, A; Iacoangeli, A; van Vugt, JJFA; Bowles, H; Moisse, M; Zwamborn, RAJ; van der Spek, RAA; Shatunov, A; Cooper Knock, J; Topp, S; Byrne, R; Gellera, C; Lopez, V; Jones, AR; Opie Martin, S; Vural, A; Campos, Y; van Rheenen, W; Kenna, B; Van Eijk, KR; ...More
PUBLISHED: 2022, SOURCE: NPJ GENOMIC MEDICINE, VOLUME: 7, ISSUE: 1
AUTHORS: Al Khleifat, A; Iacoangeli, A; van Vugt, JJFA; Bowles, H; Moisse, M; Zwamborn, RAJ; van der Spek, RAA; Shatunov, A; Cooper Knock, J; Topp, S; Byrne, R; Gellera, C; Lopez, V; Jones, AR; Opie Martin, S; Vural, A; Campos, Y; van Rheenen, W; Kenna, B; Van Eijk, KR; ...More
PUBLISHED: 2022, SOURCE: NPJ GENOMIC MEDICINE, VOLUME: 7, ISSUE: 1
INDEXED IN: Scopus WOS
4
TITLE: Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis Full Text
AUTHORS: Tazelaar, Gijs H. P.; Hop, Paul J.; Seelen, Meinie; van Vugt, Joke J. F. A.; van Rheenen, Wouter; Kool, Lindy; van Eijk, Kristel R.; Gijzen, Marleen; Dooijes, Dennis; Moisse, Matthieu; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Nordin, Angelica; Pardina, Jesus S. Mora; Ravits, John; Al Chalabi, Ammar; Chio, Adriano; McLaughlin, Russell L.; ...More
PUBLISHED: 2022, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 122
AUTHORS: Tazelaar, Gijs H. P.; Hop, Paul J.; Seelen, Meinie; van Vugt, Joke J. F. A.; van Rheenen, Wouter; Kool, Lindy; van Eijk, Kristel R.; Gijzen, Marleen; Dooijes, Dennis; Moisse, Matthieu; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Nordin, Angelica; Pardina, Jesus S. Mora; Ravits, John; Al Chalabi, Ammar; Chio, Adriano; McLaughlin, Russell L.; ...More
PUBLISHED: 2022, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 122
INDEXED IN: Scopus WOS
5
TITLE: Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data Full Text
AUTHORS: Al Khleifat, A; Iacoangeli, A; Jones, AR; van Vugt, JJFA; Moisse, M; Shatunov, A; Zwamborn, RAJ; van der Spek, RAA; Cooper Knock, J; Topp, S; van Rheenen, W; Kenna, B; Van Eijk, KR; Kenna, K; Byrne, R; López, V; Opie Martin, S; Vural, A; Campos, Y; Weber, M; ...More
PUBLISHED: 2022, SOURCE: FRONTIERS IN CELLULAR NEUROSCIENCE, VOLUME: 16
AUTHORS: Al Khleifat, A; Iacoangeli, A; Jones, AR; van Vugt, JJFA; Moisse, M; Shatunov, A; Zwamborn, RAJ; van der Spek, RAA; Cooper Knock, J; Topp, S; van Rheenen, W; Kenna, B; Van Eijk, KR; Kenna, K; Byrne, R; López, V; Opie Martin, S; Vural, A; Campos, Y; Weber, M; ...More
PUBLISHED: 2022, SOURCE: FRONTIERS IN CELLULAR NEUROSCIENCE, VOLUME: 16
INDEXED IN: Scopus WOS
6
TITLE: The Effect of SMN Gene Dosage on ALS Risk and Disease Severity Full Text
AUTHORS: Moisse, M; Zwamborn, RAJ; van Vugt, J; van der Spek, R; van Rheenen, W; Kenna, B; Van Eijk, K; Kenna, K; Corcia, P; Couratier, P; Vourc'h, P; Hardiman, O; McLaughin, R; Gotkine, M; Drory, V; Ticozzi, N; Silani, V; de Carvalho, M; Pardina, JSM; Povedano, M; ...More
PUBLISHED: 2021, SOURCE: ANNALS OF NEUROLOGY
AUTHORS: Moisse, M; Zwamborn, RAJ; van Vugt, J; van der Spek, R; van Rheenen, W; Kenna, B; Van Eijk, K; Kenna, K; Corcia, P; Couratier, P; Vourc'h, P; Hardiman, O; McLaughin, R; Gotkine, M; Drory, V; Ticozzi, N; Silani, V; de Carvalho, M; Pardina, JSM; Povedano, M; ...More
PUBLISHED: 2021, SOURCE: ANNALS OF NEUROLOGY
INDEXED IN: Scopus WOS
7
TITLE: Medical therapies for amyotrophic lateral sclerosis-related respiratory decline: an appraisal of needs, opportunities and obstacles
AUTHORS: Young, C; Pinto, S; Grosskreutz, J; Hardiman, O; Clawson, LL; Cudkowicz, ME; Andrews, JA;
PUBLISHED: 2021, SOURCE: AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
AUTHORS: Young, C; Pinto, S; Grosskreutz, J; Hardiman, O; Clawson, LL; Cudkowicz, ME; Andrews, JA;
PUBLISHED: 2021, SOURCE: AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
INDEXED IN: Scopus WOS
8
TITLE: Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort Full Text
AUTHORS: Gij S H P Tazelaar; Annelot M Dekker; Joke J F A van Vugt; Rick A van der Spek; Henk Jan Westeneng; Lindy J B G Kool; Kevin P Kenna; Wouter van Rheenen; Sara L Pulit; Russell L McLaughlin; William Sproviero; Alfredo Iacoangeli; Annemarie Huebers; David Brenner; Karen E Morrison; Pamela J Shaw; Christopher E Shaw; Monica P Povedano Panades; Jesus S M Mora Pardina; Jonathan D Glass; ...More
PUBLISHED: 2019, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 74
AUTHORS: Gij S H P Tazelaar; Annelot M Dekker; Joke J F A van Vugt; Rick A van der Spek; Henk Jan Westeneng; Lindy J B G Kool; Kevin P Kenna; Wouter van Rheenen; Sara L Pulit; Russell L McLaughlin; William Sproviero; Alfredo Iacoangeli; Annemarie Huebers; David Brenner; Karen E Morrison; Pamela J Shaw; Christopher E Shaw; Monica P Povedano Panades; Jesus S M Mora Pardina; Jonathan D Glass; ...More
PUBLISHED: 2019, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 74
INDEXED IN: WOS
9
TITLE: A phase III trial of tirasemtiv as a potential treatment for amyotrophic lateral sclerosis
AUTHORS: Jeremy M Shefner; Merit E Cudkowicz; Orla Hardiman; Bettina M Cockroft; Jacqueline H Lee; Fady I Malik; Lisa Meng; Stacy A Rudnicki; Andrew A Wolff; Jinsy A Andrews; Philip Van Damme; Lawrence Korngut; Wendy Johnston; Colleen O'Connell; Ian Grant; John Turnbull; Christen Shoesmith; Lorne Zinman; Stephan Botez; Angela Genge; ...More
PUBLISHED: 2019, SOURCE: AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, VOLUME: 20, ISSUE: 7-8
AUTHORS: Jeremy M Shefner; Merit E Cudkowicz; Orla Hardiman; Bettina M Cockroft; Jacqueline H Lee; Fady I Malik; Lisa Meng; Stacy A Rudnicki; Andrew A Wolff; Jinsy A Andrews; Philip Van Damme; Lawrence Korngut; Wendy Johnston; Colleen O'Connell; Ian Grant; John Turnbull; Christen Shoesmith; Lorne Zinman; Stephan Botez; Angela Genge; ...More
PUBLISHED: 2019, SOURCE: AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, VOLUME: 20, ISSUE: 7-8
INDEXED IN: WOS
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TITLE: New clues to the evolutionary history of the main European paternal lineage M269: dissection of the Y-SNP S116 in Atlantic Europe and Iberia Full Text
AUTHORS: Laura Valverde; Maria J Jose Illescas; Patricia Villaescusa; Amparo M Gotor; Ainara Garcia; Sergio Cardoso; Jaime Algorta; Susana Catarino; Karen Rouault; Claude Ferec; Orla Hardiman; Maite Zarrabeitia; Susana Jimenez; Maria Fatima Pinheiro; Begona M Jarreta; Jill Olofsson; Niels Morling; Marian M de Pancorbo;
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 3
AUTHORS: Laura Valverde; Maria J Jose Illescas; Patricia Villaescusa; Amparo M Gotor; Ainara Garcia; Sergio Cardoso; Jaime Algorta; Susana Catarino; Karen Rouault; Claude Ferec; Orla Hardiman; Maite Zarrabeitia; Susana Jimenez; Maria Fatima Pinheiro; Begona M Jarreta; Jill Olofsson; Niels Morling; Marian M de Pancorbo;
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 3