Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Julius Rönkkö"'
Autor:
Julius Rönkkö, Svetlana Molchanova, Anya Revah‐Politi, Elaine M. Pereira, Mari Auranen, Jussi Toppila, Jouni Kvist, Anastasia Ludwig, Julika Neumann, Geert Bultynck, Stéphanie Humblet‐Baron, Adrian Liston, Anders Paetau, Claudio Rivera, Matthew B. Harms, Henna Tyynismaa, Emil Ylikallio
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 1962-1972 (2020)
Abstract Objective ITPR3, encoding inositol 1,4,5‐trisphosphate receptor type 3, was previously reported as a potential candidate disease gene for Charcot‐Marie‐Tooth neuropathy. Here, we present genetic and functional evidence that ITPR3 is a
Externí odkaz:
https://doaj.org/article/b677654436f5422098c6dce97f6fade5
Autor:
Svetlana M. Molchanova, Elaine M. Pereira, Jussi Toppila, Anders Paetau, Anya Revah-Politi, Julius Rönkkö, Adrian Liston, Claudio Rivera, Mari Auranen, Anastasia Ludwig, Emil Ylikallio, Matthew B. Harms, Julika Neumann, Stephanie Humblet-Baron, Jouni Kvist, Henna Tyynismaa, Geert Bultynck
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 1962-1972 (2020)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Wiley, 2020, 7 (10), pp.1962-1972. ⟨10.1002/acn3.51190⟩
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Wiley, 2020, 7 (10), pp.1962-1972. ⟨10.1002/acn3.51190⟩
OBJECTIVE: ITPR3, encoding inositol 1,4,5-trisphosphate receptor type 3, was previously reported as a potential candidate disease gene for Charcot-Marie-Tooth neuropathy. Here, we present genetic and functional evidence that ITPR3 is a Charcot-Marie-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f00a893b884689ff0feec6cc0abb3ab1
https://doaj.org/article/b677654436f5422098c6dce97f6fade5
https://doaj.org/article/b677654436f5422098c6dce97f6fade5
Autor:
Claudio Rivera, Henna Tyynismaa, Emil Ylikallio, Adrian Liston, Julius Rönkkö, Matthew B. Harms, Anastasia Ludwig, Svetlana M. Molchanova, Stephanie Humblet-Baron, Elaine M. Pereira, Anya Revah-Politi, Geert Bultynck, Julika Neumann, Jouni Kvist, Mari Auranen, Jussi Toppila, Anders Patau
Publikováno v:
Neuromuscular Disorders
Neuromuscular Disorders, Elsevier, 2020, 30, pp.S167-S168. ⟨10.1016/j.nmd.2020.09.011⟩
Neuromuscular Disorders, Elsevier, 2020, 30, pp.S167-S168. ⟨10.1016/j.nmd.2020.09.011⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b89bc9afefdc2a09cc345e54a44ec9e
https://hal-amu.archives-ouvertes.fr/hal-03269479
https://hal-amu.archives-ouvertes.fr/hal-03269479
