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Research Interests

Papers共 389 篇Author StatisticsCo-AuthorSimilar Experts

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Integrated Single-Cell Functional-Proteomic Profiling Reveals a Shift in Myofibre Specificity in Human Nemaline Myopathy: A Proof-of-principle Study
Robert A E Seaborne, Roger Moreno-Justicia, Jenni Laitila, Chris T A Lewis, Lola Savoure,Edmar Zanoteli,Michael W Lawlor,Heinz Jungbluth,Atul S Deshmukh,Julien Ochala
The Journal of physiologyno. 10 (2025): 3033-3048
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Disease Spectrum and Long-Term Prognosis of Patients with BAG3-associated Neuromuscular Diseases in Europe
Gorka Fernández-Eulate,Cyril Gitiaux,Simone Thiele,Heinz Jungbluth,Anna Potulska-Chromik, Chiara Marini-Bettolo, Jean Baptiste Davion,Germán Morís, Eduard Gallardo,Montsé Olivé, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Frederique Audic,Arnaud Isapof,Maggie C Walter,Corrado Angelini, Enrico Bertini, Ulrike Schara-Schmidt,Kristl G Claeys,Maike F Dohrn, Mohamed Dembele, Frederic Fer, Guy Brochier, Teresinha Evangelista,Anna Kostera-Pruszczyk,Shahram Attarian,Volker Straub, Cristina Dominguez-Gonzalez,John Vissing,Pascale Richard,Corinne Metay,Diala Khraiche,Karim Wahbi,Tanya Stojkovic
Brain a journal of neurology (2025)
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Mutations in EPG5 Are Associated with a Wide Spectrum of Neurodevelopmental and Neurodegenerative Disorders
Hormos Salimi Dafsari,Celine Deneubourg,Kritarth Singh,Reza Maroofian, Zita Suprenant,Ay Lin Kho,Neil J Ingham,Karen P Steel,Preethi Sheshadri, Franciska Baur, Lea Hentrich,Birgit Gerisch,Mina Zamani,Cesar Alves,Ata Siddiqui,Haidar S Dafsari,Mehri Salari,Anthony Lang,Michael Harris,Alice Abdelaleem,Saeid Sadeghian, Reza Azizalamiri,Hamid Galehdari,Gholamreza Shariati,Alireza Sedaghat,Jawaher Zeighami,Daniel Calame,Dana Marafi,Ruizhi Duan, Adrian Boehnke,Carrie Mohila,Dora Steel, Saurabh Chopra,Suvasini Sharma,Nicolai Kohlschmidt,Steffi Patzer,Afshin Saffari,Darius Ebrahimi-Fakhari,Buesra Eser Cavdartepe,Irene J. Chang,Erika Beckman, Renate Peters,Andrew Paul Fennell,Bernice Lo,Luisa Averdunk,Felix Distelmaier,Martina Baethmann,Frances Elmslie, Karit Joost,Sheela Nampoothiri,Dhanya Yesodharan,Hannah Mandel,Amy Kimball,Antonie D. Kline,Cyril Mignot,Boris Keren,Vincent Laugel,Katrin Ounap,Kalpana Devadathan,Frederique M.C. van Berkestijn, Arpana Silwal,Saskia Koene,Sumit Verma,Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz,Gehad ElGhazali, Lauren Mattas,Mohammad Miryounesi,Farzad Hashemi-Gorji,Shahryar Alavi,Nayereh Nouri, Mehrdad Noruzinia, Saeedeh Kavousi,Arveen Kamath,Sandeep Jayawant,Russell Saneto,Nourelhoda A. Haridy,Pinar Ozkan Kart,Ali Cansu,Claire Beneteau,Kyra E. Stuurman,Martina Wilke,Tahsin Stefan Barakat,Homa Tajsharghi,Annarita Scardamaglia,Sadeq Vallian,Semra Hiz,Ali Shoeibi,Reza Boostani,Narges Hashemi,Meisam Babaei,Norah Saleh Alsaleh, Julie Lander,Tania Attie-Bitach,Pauline Marzin,Dorota Wicher,Jessica I Gold,Mariana H G Monje,Dimitri Krainc,Niccolo Mencacci,Somayeh Bakhtiari,Michael C Kruer,Emanuela Argilli,Elliott Sherr,Yalda Jamshidi,Ehsan Ghayoor Karimiani,Yiu Wing Sunny Cheung,Ivan Karin,Wendy K. Chung,James R. Lupski,Manju A. Kurian,Joerg Doetsch,Juergen-Christoph von Kleist-Retzow,Thomas Klopstock,Matias Wagner,Calvin K. Yip,Andreas Roos,Carlo Dionisi-Vici,Mathias Gautel,Michael R Duchen, Adam Antebi,Henry Houlden,Manolis Fanto,Heinz Jungbluth
Neuropediatrics NEP 49th Annual Meeting of the Society for Neuropediatrics 2024（2024）
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Author Statistics

#Papers: 389

#Citation: 11498

H-Index: 61

G-Index: 96

Sociability: 8

Diversity: 3

Activity: 41

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