Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Inès Mademan"'
Autor:
Danique Beijer, Hong Joo Kim, Lin Guo, Kevin O’Donovan, Inès Mademan, Tine Deconinck, Kristof Van Schil, Charlotte M. Fare, Lauren E. Drake, Alice F. Ford, Andrzej Kochański, Dagmara Kabzińska, Nicolas Dubuisson, Peter Van den Bergh, Nicol C. Voermans, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Devon Bonner, Jacinda B. Sampson, Matthew T. Wheeler, Anahit Mehrabyan, Steven Palmer, Peter De Jonghe, James Shorter, J. Paul Taylor, Jonathan Baets
Publikováno v:
JCI Insight, Vol 6, Iss 14 (2021)
Mutations in HNRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare cause of amyotrophic lateral sclerosis (ALS) and multisystem proteinopathy (MSP). hnRNPA1 is part of the group of RNA-binding proteins (RBPs) that assemble wi
Externí odkaz:
https://doaj.org/article/47cf72fa59a4478a90634b78aa5718fd
Autor:
Inès Mademan, Lauren E. Drake, James Shorter, Kevin J. O'Donovan, Alice Flynn Ford, Andrzej Kochański, Matthew T. Wheeler, Kristof Van Schil, Nicolas Dubuisson, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Jonathan Baets, Devon Bonner, J. Paul Taylor, Peter De Jonghe, Tine Deconinck, Jacinda B. Sampson, Charlotte M. Fare, Anahit Mehrabyan, Peter Van den Bergh, Nicol C. Voermans, Dagmara Kabzińska, Lin Guo, Steven Palmer, Danique Beijer, Hong Joo Kim
Publikováno v:
Jci Insight, 6, 14
JCI Insight, 6(14). AMER SOC CLINICAL INVESTIGATION INC
JCI Insight
JCI insight, Vol. 6, no.14, p. 1-18 (2021)
Jci Insight, 6
JCI insight
JCI Insight, 6(14). AMER SOC CLINICAL INVESTIGATION INC
JCI Insight
JCI insight, Vol. 6, no.14, p. 1-18 (2021)
Jci Insight, 6
JCI insight
Mutations in HNRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare cause of amyotrophic lateral sclerosis (ALS) and multisystem proteinopathy (MSP). hnRNPA1 is part of the group of RNA-binding proteins (RBPs) that assemble wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f44f7da41fba7d5d08ec3934beb42a6
https://hdl.handle.net/1887/3214438
https://hdl.handle.net/1887/3214438
Autor:
Sharon Aharoni, Inès Mademan, Rebecca Meyer-Schuman, Carmen Espinós, Shawna M. E. Feely, Peter De Jonghe, Jonathan Baets, Vincenzo Lupo, Lina Basel-Vanagaite, Borries Demeler, Carlos Casasnovas, M. Antonia Alberti, Michael E. Shy, Anthony Antonellis, Stephan Züchner, Laurie B. Griffin, Christopher S. Francklyn, Stephanie N. Oprescu, Jamie A. Abbott
Publikováno v:
Human mutation
HUMAN MUTATION
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
HUMAN MUTATION
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
Histidyl-tRNA synthetase (HARS) ligates histidine to cognate tRNA molecules, which is required for protein translation. Mutations in HARS cause the dominant axonal peripheral neuropathy Charcot-Marie-Tooth disease type 2W (CMT2W); however, the precis
Autor:
Cheng Tsung Hsiao, Inès Mademan, Yen Ting Tseng, Hung Ta Wu, Yo Tsen Liu, Kon Ping Lin, Ueng Cheng Yang, Jonathan Baets, Tzu Hao Cheng, Garth A. Nicholson, Ki Wha Chung, Marina L. Kennerson, Chih-Chiang Chan, Yen Hua Huang, Chia Rung Liu, Peter De Jonghe, Tze Tze Liu, Yi-Chung Lee, Byung Ok Choi, Bing-Wen Soong, Stephan Züchner, Yi-Chu Liao, Pei-Chien Tsai
Publikováno v:
Brain
Distal hereditary motor neuropathy is a heterogeneous group of inherited neuropathies characterized by distal limb muscle weakness and atrophy. Although at least 15 genes have been implicated in distal hereditary motor neuropathy, the genetic causes
Autor:
Inès Mademan, Florian Harmuth, Ilaria Giordano, Dagmar Timmann, Stefania Magri, Tine Deconinck, Jens Claaßen, Daniel Jokisch, Gencer Genc, Daniela Di Bella, Silvia Romito, Rebecca Schüle, Stephan Züchner, Franco Taroni, Thomas Klockgether, Ludger Schöls, Peter De Jonghe, Peter Bauer, EOA Consortium, Jonathan Baets, Matthis Synofzik
Publikováno v:
Brain 139(8), e46-e46 (2016). doi:10.1093/brain/aww115
Brain
Brain
Sir, We recently reported in Brain a large multi-centre study suggesting that truncating SYNE1 mutations are a recurrent cause of recessive ataxia also outside Quebec (23/434 = 5.3% of patients with unexplained early-onset ataxia) (Synofzik et al. ,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::516427c29f00d7527272167cdb5672a3
Autor:
Jamie A. Abbott, Rebecca Meyer-Schuman, Vincenzo Lupo, Shawna Feely, Inès Mademan, Stephanie N. Oprescu, Laurie B. Griffin, M. Antonia Alberti, Carlos Casasnovas, Sharon Aharoni, Lina Basel-Vanagaite, Stephan Züchner, Peter De Jonghe, Jonathan Baets, Michael E. Shy, Carmen Espinós, Borries Demeler, Anthony Antonellis, Christopher Francklyn
Publikováno v:
Human Mutation. 39:i-i
Autor:
Georges Mer, Kaori Hojo, Shana L. Merrill, Jessica Deleon, Peter Van den Bergh, Maria Victoria Botuyan, Noah Beadell, Inès Mademan, Christopher J. Klein, Gregory A. Worrell, Yanhong Wu, Henry Houlden, Nicole McGrath, Jan Senderek, Gordon Smith, Jonathan Baets, Xiaohui Duan, Mary M. Reilly, Julie Khoury, Murray Grossman, Joachim Weis, Matilde Laura, William W. Seeley, Steven S. Scherer, Peter De Jonghe, Yo Tsen Liu, Peter J. Dyck
Publikováno v:
Brain
Baets et al. expand the clinical spectrum of hereditary sensory and autonomic neuropathy type 1E (HSAN1E) by studying nine newly identified kinships, and reveal a potential pathogenic mechanism for causative DNMT1 mutations. Mutant DNMT1 proteins for
Publikováno v:
Acta neurologica Belgica
Congenital insensitivity to pain with anhidrosis (CIPA), also known as Hereditary Sensory and Autonomic Neuropathy type IV (HSAN IV), is a rare autosomal recessive disorder which affects the peripheral nervous system. CIPA is caused by mutations in t
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3
Autor:
Sebastian Gießelmann, Thorsten Schinke, Inès Mademan, Stefan Mundlos, Uwe Kornak, Juan J. Vílchez, Andreas Gal, A. Pou-Serradell, Tine Deconinck, Michael Amling, Peter Krawitz, Martin Voigt, Christoph Kaether, Christian A. Hübner, Marte Schinke, Vincent Timmerman, Christian Beetz, F. Timo Beil, Jonathan Baets, Jochen Hecht, Ingo Kurth, Peter De Jonghe, Florian Barvencik
Publikováno v:
Brain
BRAIN
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
BRAIN
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Many neurodegenerative disorders present with sensory loss. In the group of hereditary sensory and autonomic neuropathies loss of nociception is one of the disease hallmarks. To determine underlying factors of sensory neurodegeneration we performed w
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
Autor:
Pei-Chien Tsai, Bing-Wen Soong, Inès Mademan, Yen-Hua Huang, Chia-Rung Liu, Cheng-Tsung Hsiao, Hung-Ta Wu, Tze-Tze Liu, Yo-Tsen Liu, Yen-Ting Tseng, Kon-Ping Lin, Ueng-Cheng Yang, Ki Wha Chung, Byung-Ok Choi, Nicholson, Garth A., Kennerson, Marina L., Chih-Chiang Chan, Peter De Jonghe, Tzu-Hao Cheng, Yi-Chu Liao
Publikováno v:
Brain: A Journal of Neurology; May2017, Vol. 140 Issue 5, p1252-1266, 15p