Results
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De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy. [electronic resource] by
- Mademan, Inès
- Deconinck, Tine
- Dinopoulos, Argirios
- Voit, Thomas
- Schara, Ulrike
- Devriendt, Koenraad
- Meijers, Björn
- Lerut, Evelyne
- De Jonghe, Peter
- Baets, Jonathan
Producer: 20140121
In:
Neurology vol. 81
Availability: No items available.
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Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum. [electronic resource] by
- Mademan, Inès
- Harmuth, Florian
- Giordano, Ilaria
- Timmann, Dagmar
- Magri, Stefania
- Deconinck, Tine
- Claaßen, Jens
- Jokisch, Daniel
- Genc, Gencer
- Di Bella, Daniela
- Romito, Silvia
- Schüle, Rebecca
- Züchner, Stephan
- Taroni, Franco
- Klockgether, Thomas
- Schöls, Ludger
- De Jonghe, Peter
- Bauer, Peter
- Consortium, Eoa
- Baets, Jonathan
- Synofzik, Matthis
Producer: 20180131
In:
Brain : a journal of neurology vol. 139
Availability: No items available.
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Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. [electronic resource] by
- Abbott, Jamie A
- Meyer-Schuman, Rebecca
- Lupo, Vincenzo
- Feely, Shawna
- Mademan, Inès
- Oprescu, Stephanie N
- Griffin, Laurie B
- Alberti, M Antonia
- Casasnovas, Carlos
- Aharoni, Sharon
- Basel-Vanagaite, Lina
- Züchner, Stephan
- De Jonghe, Peter
- Baets, Jonathan
- Shy, Michael E
- Espinós, Carmen
- Demeler, Borries
- Antonellis, Anthony
- Francklyn, Christopher
Producer: 20190328
In:
Human mutation vol. 39
Availability: No items available.
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Truncating [electronic resource] by
- Salter, Claire G
- Beijer, Danique
- Hardy, Holly
- Barwick, Katy E S
- Bower, Matthew
- Mademan, Ines
- De Jonghe, Peter
- Deconinck, Tine
- Russell, Mark A
- McEntagart, Meriel M
- Chioza, Barry A
- Blakely, Randy D
- Chilton, John K
- De Bleecker, Jan
- Baets, Jonathan
- Baple, Emma L
- Walk, David
- Crosby, Andrew H
Publication details: Neurology. Genetics Apr 2018
In:
Neurology. Genetics vol. 4
Availability: No items available.
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Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. [electronic resource] by
- Kornak, Uwe
- Mademan, Inès
- Schinke, Marte
- Voigt, Martin
- Krawitz, Peter
- Hecht, Jochen
- Barvencik, Florian
- Schinke, Thorsten
- Gießelmann, Sebastian
- Beil, F Timo
- Pou-Serradell, Adolf
- Vílchez, Juan J
- Beetz, Christian
- Deconinck, Tine
- Timmerman, Vincent
- Kaether, Christoph
- De Jonghe, Peter
- Hübner, Christian A
- Gal, Andreas
- Amling, Michael
- Mundlos, Stefan
- Baets, Jonathan
- Kurth, Ingo
Producer: 20140526
In:
Brain : a journal of neurology vol. 137
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A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. [electronic resource] by
- Tsai, Pei-Chien
- Soong, Bing-Wen
- Mademan, Inès
- Huang, Yen-Hua
- Liu, Chia-Rung
- Hsiao, Cheng-Tsung
- Wu, Hung-Ta
- Liu, Tze-Tze
- Liu, Yo-Tsen
- Tseng, Yen-Ting
- Lin, Kon-Ping
- Yang, Ueng-Cheng
- Chung, Ki Wha
- Choi, Byung-Ok
- Nicholson, Garth A
- Kennerson, Marina L
- Chan, Chih-Chiang
- De Jonghe, Peter
- Cheng, Tzu-Hao
- Liao, Yi-Chu
- Züchner, Stephan
- Baets, Jonathan
- Lee, Yi-Chung
Producer: 20171030
In:
Brain : a journal of neurology vol. 140
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Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. [electronic resource] by
- Baets, Jonathan
- Duan, Xiaohui
- Wu, Yanhong
- Smith, Gordon
- Seeley, William W
- Mademan, Inès
- McGrath, Nicole M
- Beadell, Noah C
- Khoury, Julie
- Botuyan, Maria-Victoria
- Mer, Georges
- Worrell, Gregory A
- Hojo, Kaori
- DeLeon, Jessica
- Laura, Matilde
- Liu, Yo-Tsen
- Senderek, Jan
- Weis, Joachim
- Van den Bergh, Peter
- Merrill, Shana L
- Reilly, Mary M
- Houlden, Henry
- Grossman, Murray
- Scherer, Steven S
- De Jonghe, Peter
- Dyck, Peter J
- Klein, Christopher J
Producer: 20150616
In:
Brain : a journal of neurology vol. 138
Availability: No items available.
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