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J

Johann Böhm

centre national de la recherche scientifique (cnrs)
H指数:34
被引数:3,242

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Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era
ACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
2024-12-200
OAAI
Bui, Mai Thao; Fernandez-Eulate, Gorka; Evangelista, Teresinha; Lacene, Emmanuelle; Brochier, Guy; Labasse, Clemence; Madelaine, Angeline; Chanut, Anais; Beuvin, Maud; Borsato-Levy, Favienne; Biancalana, Valerie; Barcia, Giulia; De Lonlay, Pascale; Laporte, Jocelyn; Boehm, Johann; Romero, Norma Beatriz
Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
IF3.4
2024-01-212
PRE
vanden Brande, Laura; Bauche, Stephanie; Perez-Guardia, Laura; Sternberg, Damien; Seferian, Andreea M.; Malfatti, Edoardo; Silva-Rojas, Roberto; Labasse, Clemence; Chevessier, Frederic; Carlier, Pierre; Eymard, Bruno; Romero, Norma B.; Laporte, Jocelyn; Servais, Laurent; Gidaro, Teresa; Bohm, Johann
Mutation update for the ACTN2 gene
HUMAN MUTATION
IF3.7
2022-09-2721
OA
Ranta-aho, Johanna; Olive, Montse; Vandroux, Marie; Roticiani, Giorgia; Dominguez, Cristina; Johari, Mridul; Torella, Annalaura; Bohm, Johann; Turon, Janina; Nigro, Vincenzo; Hackman, Peter; Laporte, Jocelyn; Udd, Bjarne; Savarese, Marco
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
ACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
2022-07-0915
OA
Labasse, Clemence; Brochier, Guy; Taratuto, Ana-Lia; Cadot, Bruno; Rendu, John; Monges, Soledad; Biancalana, Valerie; Quijano-Roy, Susana; Bui, Mai Thao; Chanut, Anais; Madelaine, Angeline; Lacene, Emmanuelle; Beuvin, Maud; Amthor, Helge; Servais, Laurent; de Feraudy, Yvan; Erro, Marcela; Saccoliti, Maria; Abath Neto, Osorio; Faure, Julien; Lannes, Beatrice; Laugel, Vincent; Coppens, Sandra; Lubieniecki, Fabiana; Bello, Ana Buj; Laing, Nigel; Evangelista, Teresinha; Laporte, Jocelyn; Bohm, Johann; Romero, Norma B.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
NATURE COMMUNICATIONS
IF15.7
2022-04-2824
OAAI
Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; Foulds, Nicola; Hammans, Simon R.; Foley, A. Reghan; Fare, Charlotte M.; Ford, Alice F.; Ogasawara, Masashi; Sato, Aki; Iida, Aritoshi; Munot, Pinki; Ambegaonkar, Gautam; Phadke, Rahul; O'Donovan, Dominic G.; Buchert, Rebecca; Grimmel, Mona; Topf, Ana; Zaharieva, Irina T.; Brady, Lauren; Hu, Ying; Lloyd, Thomas E.; Klein, Andrea; Steinlin, Maja; Kuster, Alice; Mercier, Sandra; Marcorelles, Pascale; Pereon, Yann; Fleurence, Emmanuelle; Manzur, Adnan; Ennis, Sarah; Upstill-Goddard, Rosanna; Bello, Luca; Bertolin, Cinzia; Pegoraro, Elena; Salviati, Leonardo; French, Courtney E.; Shatillo, Andriy; Raymond, F. Lucy; Haack, Tobias; Quijano-Roy, Susana; Bohm, Johann; Nelson, Isabelle; Stojkovic, Tanya; Evangelista, Teresinha; Straub, Volker; Romero, Norma B.; Laporte, Jocelyn; Muntoni, Francesco; Nishino, Ichizo; Tarnopolsky, Mark A.; Shorter, James; Bonnemann, Carsten G.; Taylor, J. Paul

研究方向

暂未获取到该数据
J
Jocelyn Laporte
H 指数:70论文数:493被引数:2.7万
X
Xavière Lornage
H 指数:18论文数:53被引数:901
N
Norma B. Romero
H 指数:34论文数:117被引数:3,670
N
Norma B. Romero
H 指数:64论文数:364被引数:1.4万
R
Roberto Silva‐Rojas
H 指数:9论文数:26被引数:294
V
Valérie Biancalana
H 指数:38论文数:170被引数:6,625
A
A. Reghan Foley
H 指数:40论文数:173被引数:7,354
E
Edoardo Malfatti
H 指数:12论文数:43被引数:623
M
Michel Fardeau
H 指数:80论文数:475被引数:2.4万
C
Carsten G. Bönnemann
H 指数:76论文数:547被引数:2.2万