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C

Christoph Bachmann

hopital universitaire marin de hendaye - aphp
H指数:10
被引数:462

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Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies

遗传多样性先天性肌病患者肌肉的靶向转录本分析

BRAIN COMMUNICATIONS
IF4.5
2022-09-022
OAAI
Bachmann, Christoph; Franchini, Martina; van den Bersselaar, Luuk R.; Kruijt, Nick; Voermans, Nicol C.; Bouman, Karlijn; Kamsteeg, Erik-Jan; Knop, Karl Christian; Ruggiero, Lucia; Santoro, Lucio; Nevo, Yoram; Wilmshurst, Jo; Vissing, John; Sinnreich, Michael; Zorzato, Daniele; Muntoni, Francesco; Jungbluth, Heinz; Zorzato, Francesco; Treves, Susan
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies

表观遗传修饰剂的异常调节有助于硒蛋白N相关肌病患者的发病机制

HUMAN MUTATION
IF3.7
2019-04-0115
OAAI
Bachmann, Christoph; Noreen, Faiza; Voermans, Nicol C.; Schaer, Primo L.; Vissing, John; Fock, Johanna M.; Bulk, Saskia; Kusters, Benno; Moore, Steven A.; Beggs, Alan H.; Mathews, Katherine D.; Meyer, Megan; Genetti, Casie A.; Meola, Giovanni; Cardani, Rosanna; Mathews, Emma; Jungbluth, Heinz; Muntoni, Francesco; Zorzato, Francesco; Treves, Susan
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility
HUMAN MUTATION
IF3.7
2018-10-1140
OAAI
Zaharieva, Irina T.; Sarkozy, Anna; Munot, Pinki; Manzur, Adnan; O'Grady, Gina; Rendu, John; Malfatti, Eduardo; Amthor, Helge; Servais, Laurent; Urtizberea, J. Andoni; Abath Neto, Osorio; Zanoteli, Edmar; Donkervoort, Sandra; Taylor, Juliet; Dixon, Joanne; Poke, Gemma; Foley, A. Reghan; Holmes, Chris; Williams, Glyn; Holder, Muriel; Yum, Sabrina; Medne, Livija; Quijano-Roy, Susana; Romero, Norma B.; Faure, Julien; Feng, Lucy; Bastaki, Laila; Davis, Mark R.; Phadke, Rahul; Sewry, Caroline A.; Bonnemann, Carsten G.; Jungbluth, Heinz; Bachmann, Christoph; Treves, Susan; Muntoni, Francesco

研究方向

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S
Susan Treves
H 指数:48论文数:231被引数:6,851
F
Francesco Zorzato
H 指数:43论文数:177被引数:9,203
H
Heinz Jungbluth
H 指数:64论文数:458被引数:2.1万
A
Alexis Ruiz
H 指数:7论文数:21被引数:124
J
Jan Eckhardt
H 指数:7论文数:30被引数:193
F
Francesco Muntoni
H 指数:97论文数:768被引数:3.7万
N
Nicol C. Voermans
H 指数:49论文数:490被引数:9,275
F
Francesco Muntoni
H 指数:75论文数:401被引数:1.9万
M
Moran Elbaz
H 指数:9论文数:28被引数:208
S
Sofia Benucci
H 指数:5论文数:17被引数:49