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Papers共 269 篇Author StatisticsCo-AuthorSimilar Experts

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Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Brent L Fogel,Thomas Klopstock,David R Lynch, Francesca Maltecca,Mayank Verma, Berge A Minassian, Frances M Platt, Débora Farina Gonçalves,Hélène Puccio,Andreas Roos,Matthis Synofzik
Annals of neurology (2025)
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Deciphering DST-associated Disorders: Biallelic Variants Affecting DST-b Cause a Congenital Myopathy
Maureen Jacob, Heike Kölbel, Philip Harrer, Robert Kopajtich, Pinki Munot, Melanie T Achleitner, Susann Badmann, Melanie Brugger,Theresa Brunet,Gisèle Bonne, Marta Codina, Laura Ebner, Peyman Eshraghi, Katharina Eyring, Ahmad Shah Farhat,René G Feichtinger,Elisabeth Graf, Anna Marcé-Grau,Andreas Hahn,Henry Houlden,Ehsan Ghayoor Karimiani, Véronique Manel,Katharina Mayerhanser,Juliette Nectoux,Isabelle Nelson,Rahul Phadke,Holger Prokisch, Saeid Sadeghian, Alice Saparov, Anne Schänzer, Ulrike Schara-Schmidt,Julia Schmidt, Rahel Schuler,Caroline Sewry,Gholamreza Shariati, Silke Slanz,Dmitrii Smirnov, Rivka Sukenik-Halevy,Homa Tajsharghi,Mehran Beiraghi Toosi, Laura Trujillano,Joachim Weis,Louise C Wilson, Rabah Ben Yaou,Mina Zamani,Michael Zech, Jana Zschüntzsch,Uwe Kornak,David Goméz-Andrés,Reza Maroofian,Juliane Winkelmann,Andreas Roos,Felix Distelmaier,Johannes A Mayr,Matias Wagner
Brain a journal of neurology (2025)
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Glycogenosis Type XI, a Rare Association Between Muscle and Skin Manifestations - the Contribution of Proteomics for the Understanding of the Underlying Myopathology
Andreas Hentschel,Emmanuelle Lacene, Guy Brochier, Jean-Marc Boisserie, Yves Fromes,Norma Beatriz Romero,Andreas Roos, Teresinha Evangelista
Journal of neuromuscular diseasespp.22143602241296248-22143602241296248, (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: 268

#Citation: 3050

H-Index: 29

G-Index: 49

Sociability: 7

Diversity: 3

Activity: 95

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