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1 . Academic Journal
Meta-analysis towards FSHD reveals misregulation of neuromuscular junction, nuclear envelope, and spliceosome
저자
by
Teresa Schätzl
;
Vanessa Todorow
;
Lars Kaiser
;
Helga Weinschrott
;
Benedikt Schoser
, et al.
소스
Communications Biology, Vol 7, Iss 1, Pp 1-14 (2024)
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7 . Academic Journal
Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease
저자
by
Kristl G. Claeys
;
Hani Kushlaf
;
Syed Raza
;
Noemi Hummel
;
Simon Shohet
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
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7 . Academic Journal
3024 COMET post hoc analysis: efficacy of long-term avalglucosidase alfa in subgroups of patients with late-onset Pompe disease
저자
by
Mark Roberts
;
Jordi Diaz-Manera
;
Antonio Toscano
;
Sabrina Sacconi
;
Mazen M Dimachkie
, et al.
소스
BMJ Neurology Open, Vol 6, Iss Suppl 1 (2024)
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7 . Academic Journal
Characterization of the neuropathic pain component contributing to myalgia in patients with myotonic dystrophy type 1 and 2
저자
by
Viviane Schmitt
;
Petra Baeumler
;
Anne Schänzer
;
Dominik Irnich
;
Benedikt Schoser
, et al.
소스
Frontiers in Neurology, Vol 15 (2024)
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7 . Academic Journal
Author Correction: Degeneration of muscle spindles in a murine model of Pompe disease
저자
by
Bridgette Watkins
;
Jürgen Schultheiß
;
Andi Rafuna
;
Stefan Hintze
;
Peter Meinke
, et al.
소스
Scientific Reports, Vol 14, Iss 1, Pp 1-3 (2024)
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7 . Academic Journal
Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review
저자
by
Benedikt Schoser
;
Nina Raben
;
Fatbardha Varfaj
;
Mark Walzer
;
Antonio Toscano
.
소스
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101085- (2024)
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7 . Academic Journal
A Straightforward Approach to Analyze Skeletal Muscle MRI in Limb-Girdle Muscular Dystrophy for Differential Diagnosis: A Systematic Review
저자
by
Ryo Morishima
;
Benedikt Schoser
.
소스
Muscles, Vol 2, Iss 4, Pp 374-388 (2023)
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4 . Academic Journal
Frequency and satisfaction of conventional and complementary or alternative therapies for neuromuscular disorders
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by
Lene Änne Böhne
;
Corinna Wirner
;
Benedikt Schoser
;
Carsten Schröter
;
Petra Baum
.
소스
Neurological Research and Practice, Vol 5, Iss 1, Pp 1-11 (2023)
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7 . Academic Journal
Editorial: Implementing new technologies for neuromuscular disorders
저자
by
Nicolas Dubuisson
;
Kristl Claeys
;
Benedikt Schoser
.
소스
Frontiers in Neurology, Vol 15 (2024)
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5 . Academic Journal
P028: Switching treatment to cipaglucosidase alfa+miglustat positively affects motor function and quality of life in patients with late-onset Pompe disease
저자
by
Priya Kishnani
;
Barry Byrne
;
Kristl Claeys
;
Paula Clemens
;
Jordi Díaz-Manera
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 100905- (2024)
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