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Research Interests

Papers共 108 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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RyR1 is Involved in the Control of Myogenesis
Amandine Tourel, Robin Reynaud-Dulaurier,Julie Brocard,Julien Fauré,Isabelle Marty,Anne Petiot
Cellsno. 3 (2025)
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Functional Benefit of CRISPR/Cas9-induced Allele Deletion for RYR1 Dominant Mutation
Mathilde Beaufils, Margaux Melka,Julie Brocard, Clement Benoit, Nagi Debbah,Kamel Mamchaoui,Norma B. Romero, Anne Frederique Dalmas-Laurent,Susana Quijano-Roy,Julien Faure,John Rendu,Isabelle Marty
Molecular Therapy — Nucleic Acidsno. 3 (2024): 102259-102259
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[From Gene to Cell: Functional Validation of RYR1 Variants]
Robin Reynaud Dulaurier,Julie Brocard,John Rendu, Nagi Debbah,Julien Faure,Isabelle Marty
M S-MEDECINE SCIENCES (2024): 30-33
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Dysregulation of CaV1.1 Due to a CACNA2D4 Mutation Causing Exertional Heat Stroke
Juan A. M. de la Rosa, Allioune Fall, Natalie Roux-Buisson,Isabelle Marty,Julien Faure,Amy Lee
Biophysical Journalno. 3 (2024): 13a-13a
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The Clinical and Genetic Spectrum of Autosomal-Recessive TOR1A-related Disorders
Afshin Saffari,Tracy Lau,Homa Tajsharghi,Ehsan Ghayoor Karimiani,Ariana Kariminejad,Stephanie Efthymiou,Giovanni Zifarelli,Tipu Sultan,Mehran Beiraghi Toosi,Sahar Sedighzadeh,Victoria Mok Siu,Juan Dario Ortigoza-Escobar,Aisha M. AlShamsi,Shahnaz Ibrahim,Nouriya Abbas Al-Sannaa,Walla Al-Hertani,Whalen Sandra,Mark Tarnopolsky,Shahryar Alavi,Chumei Li,Debra-Lynn Day-Salvatore,Maria Jesus Martinez-Gonzalez, Kristin M. Levandoski,Emma Bedoukian,Suneeta Madan-Khetarpal,Michaela J. Idleburg,Minal Juliet Menezes,Aishwarya Siddharth,Konrad Platzer,Henry Oppermann,Martin Smitka,Felicity Collins,Monkol Lek,Mohmmad Shahrooei,Maryam Ghavideldarestani,Isabella Herman,John Rendu,Julien Faure,Janice Baker,Vikas Bhambhani,Laurel Calderwood,Javad Akhondian,Shima Imannezhad,Hanieh Sadat Mirzadeh,Narges Hashemi,Mohammad Doosti,Mojtaba Safi,Najmeh Ahangari,Paria Najarzadeh Torbati,Soheila Abedini,Vincenzo Salpietro,Elif Yilmaz Gulec, Safieh Eshaghian,Mohammadreza Ghazavi, Michael T. Pascher, Marina Vogel,Angela Abicht,Sebastien Moutton,Ange-Line Bruel,Claudine Rieubland,Sabina Gallati,Tim M. Strom,Hanns Lochmueller,Mohammad Hasan Mohammadi,Javeria Raza Alvi,Elaine H. Zackai,Beth A. Keena,Cara M. Skraban,Seth Berger,Erin H. Andrew,Elham Rahimian,Michelle M. Morrow,Ingrid M. Wentzensen,Francisca Millan,Lindsay B. Henderson,Hormos Salimi Dafsari,Heinz Jungbluth,Natalia Gomez-Ospina,Anne McRae,Merlene Peter,Danai Veltra,Nikolaos M. Marinakis,Christalena Sofocleous,Farah Ashrafzadeh,Davut Pehlivan,Johannes R. Lemke,Judith Melki,Audrey Benezit,Peter Bauer,Denisa Weis,James R. Lupski,Jan Senderek,John Christodoulou,Wendy K. Chung,Rose Goodchild,Amaka C. Offiah,Andres Moreno-De-Luca,Mohnish Suri,Darius Ebrahimi-Fakhari,Henry Houlden,Reza Maroofian
BRAIN（2023）
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Author Statistics

#Papers: 108

#Citation: 5320

H-Index: 33

G-Index: 72

Sociability: 7

Diversity: 3

Activity: 12

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