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High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis. [electronic resource] by
- Tripolszki, Kornélia
- Török, Dóra
- Goudenège, David
- Farkas, Katalin
- Sulák, Adrienn
- Török, Nóra
- Engelhardt, József I
- Klivényi, Péter
- Procaccio, Vincent
- Nagy, Nikoletta
- Széll, Márta
Producer: 20170424
In:
Brain and behavior vol. 7
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Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. [electronic resource] by
- Moreira, Maria-Céu
- Klur, Sandra
- Watanabe, Mitsunori
- Németh, Andrea H
- Le Ber, Isabelle
- Moniz, José-Carlos
- Tranchant, Christine
- Aubourg, Patrick
- Tazir, Meriem
- Schöls, Lüdger
- Pandolfo, Massimo
- Schulz, Jörg B
- Pouget, Jean
- Calvas, Patrick
- Shizuka-Ikeda, Masami
- Shoji, Mikio
- Tanaka, Makoto
- Izatt, Louise
- Shaw, Christopher E
- M'Zahem, Abderrahim
- Dunne, Eimear
- Bomont, Pascale
- Benhassine, Traki
- Bouslam, Naïma
- Stevanin, Giovanni
- Brice, Alexis
- Guimarães, João
- Mendonça, Pedro
- Barbot, Clara
- Coutinho, Paula
- Sequeiros, Jorge
- Dürr, Alexandra
- Warter, Jean-Marie
- Koenig, Michel
Producer: 20040503
In:
Nature genetics vol. 36
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R-loops in proliferating cells but not in the brain: implications for AOA2 and other autosomal recessive ataxias. [electronic resource] by
- Yeo, Abrey J
- Becherel, Olivier J
- Luff, John E
- Cullen, Jason K
- Wongsurawat, Thidathip
- Jenjaroenpun, Piroon
- Jenjaroenpoon, Piroon
- Kuznetsov, Vladimir A
- McKinnon, Peter J
- Lavin, Martin F
Producer: 20150106
In:
PloS one vol. 9
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152.
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Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin. [electronic resource] by
- Airoldi, Giovanni
- Guidarelli, Andrea
- Cantoni, Orazio
- Panzeri, Chris
- Vantaggiato, Chiara
- Bonato, Sara
- Grazia D'Angelo, Maria
- Falcone, Sestina
- De Palma, Clara
- Tonelli, Alessandra
- Crimella, Claudia
- Bondioni, Sara
- Bresolin, Nereo
- Clementi, Emilio
- Bassi, Maria Teresa
Producer: 20100322
In:
Neurogenetics vol. 11
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153.
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A novel heterozygous SETX mutation in a patient presenting with chorea and motor neuron disease. [electronic resource] by
- Saracchi, Enrico
- Castelli, Marianna
- Bassi, Maria T
- Brighina, Erika
- Cereda, Diletta
- Marzorati, Laura
- Patassini, Mirko
- Appollonio, Ildebrando
- Ferrarese, Carlo
- Brighina, Laura
Producer: 20141022
In:
Amyotrophic lateral sclerosis & frontotemporal degeneration vol. 15
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154.
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FAMIN Is a Multifunctional Purine Enzyme Enabling the Purine Nucleotide Cycle. [electronic resource] by
- Cader, M Zaeem
- de Almeida Rodrigues, Rodrigo Pereira
- West, James A
- Sewell, Gavin W
- Md-Ibrahim, Muhammad N
- Reikine, Stephanie
- Sirago, Giuseppe
- Unger, Lukas W
- Iglesias-Romero, Ana Belén
- Ramshorn, Katharina
- Haag, Lea-Maxie
- Saveljeva, Svetlana
- Ebel, Jana-Fabienne
- Rosenstiel, Philip
- Kaneider, Nicole C
- Lee, James C
- Lawley, Trevor D
- Bradley, Allan
- Dougan, Gordon
- Modis, Yorgo
- Griffin, Julian L
- Kaser, Arthur
Producer: 20200623
In:
Cell vol. 180
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DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases. [electronic resource] by
- Bettencourt, Conceição
- Hensman-Moss, Davina
- Flower, Michael
- Wiethoff, Sarah
- Brice, Alexis
- Goizet, Cyril
- Stevanin, Giovanni
- Koutsis, Georgios
- Karadima, Georgia
- Panas, Marios
- Yescas-Gómez, Petra
- García-Velázquez, Lizbeth Esmeralda
- Alonso-Vilatela, María Elisa
- Lima, Manuela
- Raposo, Mafalda
- Traynor, Bryan
- Sweeney, Mary
- Wood, Nicholas
- Giunti, Paola
- Durr, Alexandra
- Holmans, Peter
- Houlden, Henry
- Tabrizi, Sarah J
- Jones, Lesley
Producer: 20170607
In:
Annals of neurology vol. 79
Availability: No items available.
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