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Research Interests

Papers共 913 篇Author StatisticsCo-AuthorSimilar Experts

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Dominant Rhabdomyolysis Linked to a Recurrent ATP2A2 Variant Reducing SERCA2 Function in Muscle
Sivasankar Malaichamy, Romane Idoux,Kiran Polavarapu, Katarina Šikić, Elisa Holla,Rachel Thompson,Sally Spendiff,Anne Schänzer,Benno Kusters, Emily Freeman,Andreas Hentschel, Daniel O'Neil, Ricardo Carmona-Martinez, Vera Dobelmann, Calvin Tucht,Meyke Schouten, Tobias Ruck, Ulrike Schara-Schmidt, Erik-Jan Kamsteeg,Danijela Petković Ramadža, Antonia Jakovčević,Tamara Zigman,Mislav Čavka,Veronika Karcagi,Agnes Herczegfalvi,Steven Laurie,Leslie Matalonga,Sergi Beltran,Rita Horvath, Nicol Voermans,Andreas Roos,Ivo Barić,Hanns Lochmüller
Brain a journal of neurology (2025)
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Development of a Riboflavin-Responsive Model of Riboflavin Transporter Deficiency in Zebrafish
Catherine M. Choueiri, Jarred Lau,Emily O'Connor, Alicia Dibattista, Brittany Y. Wong,Sally Spendiff,Rita Horvath,Izabella Pena, Alexander Mackenzie,Hanns Lochmuller
Human molecular geneticsno. 3 (2025): 265-276
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Author Statistics

#Papers: 915

#Citation: 27512

H-Index: 87

G-Index: 134

Sociability: 9

Diversity: 4

Activity: 62

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