M
M. C. Walter
Researcher at Ludwig Maximilian University of Munich
Publications - 3
Citations - 475
M. C. Walter is an academic researcher from Ludwig Maximilian University of Munich. The author has contributed to research in topics: Muscular dystrophy & Duchenne muscular dystrophy. The author has an hindex of 3, co-authored 3 publications receiving 349 citations.
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A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy
Debbie Hicks,Anna Sarkozy,N. Muelas,Katrin Koehler,Angela Huebner,Gavin Hudson,Patrick F. Chinnery,Rita Barresi,Michelle Eagle,Tuomo Polvikoski,Geraldine Bailey,J Miller,Aleksandar Radunovic,P.J. Hughes,Richard C. Roberts,Sabine Krause,M. C. Walter,Steven H. Laval,Straub,Hanns Lochmüller,K. Bushby +20 more
TL;DR: It is suggested that mutations in ANO5 represent a relatively common cause of adult onset muscular dystrophy with high serum creatine kinase and that mutation screening, particularly of the common mutation c.191dupA, should be an early step in the diagnostic algorithm of adult limb-girdle muscular dystrophies patients.
Journal ArticleDOI
Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy
Alessandra Moretti,LM Fonteyne,Florian Giesert,Petra Hoppmann,A. B. Meier,Tarik Bozoglu,Andrea Baehr,Christine M. Schneider,Daniel Sinnecker,Katharina Klett,Thomas Fröhlich,F. Abdel Rahman,T. Haufe,Shicheng Sun,Victoria Jurisch,Barbara Kessler,Rabea Hinkel,Ralf J. Dirschinger,Eimo Martens,C. Jilek,Alexander Graf,Stefan Krebs,Gianluca Santamaria,Mayuko Kurome,V. Zakhartchenko,B. Campbell,K. Voelse,Anja Wolf,Tilman Ziegler,S. Reichert,Seungmin Lee,Florian Flenkenthaler,Tatjana Dorn,Irmela Jeremias,Helmut Blum,Andreas Dendorfer,Angelika Schnieke,S Krause,M. C. Walter,Nikolai Klymiuk,Karl-Ludwig Laugwitz,Eckhard Wolf,Wolfgang Wurst,Wolfgang Wurst,Christian Kupatt +44 more
TL;DR: CRISPR–Cas9-mediated gene editing restores dystrophin expression in both pig and human induced pluripotent stem cell models of Duchenne muscular dystrophy, with beneficial effects on skeletal muscle and cardiac function.
Journal ArticleDOI
Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle
Nikolai Klymiuk,Andreas Blutke,Alexander Graf,Sabine Krause,K. Burkhardt,A. Wuensch,Stefan Krebs,Barbara Kessler,Valeri Zakhartchenko,Mayuko Kurome,Elisabeth Kemter,Hiroshi Nagashima,Benedikt Schoser,Nadja Herbach,Helmut Blum,Rüdiger Wanke,Annemieke Aartsma-Rus,Christian Thirion,Hanns Lochmüller,M. C. Walter,Eckhard Wolf +20 more
TL;DR: A genome-wide transcriptome study of biceps femoris muscle specimens from 2-day-old and 3-month-old DMD and age-matched wild-type pigs provides new insights into early changes associated with dystrophin deficiency in a clinically severe animal model of DMD.