D
Dirk Fischer
Researcher at Boston Children's Hospital
Publications - 107
Citations - 3711
Dirk Fischer is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Muscular dystrophy & Duchenne muscular dystrophy. The author has an hindex of 29, co-authored 99 publications receiving 3145 citations. Previous affiliations of Dirk Fischer include Kantonsspital St. Gallen & University of Bonn.
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Journal ArticleDOI
Neuromuscular imaging in inherited muscle diseases
TL;DR: The aim of this review is to give a comprehensive overview of current methods and applications as well as future perspectives in the field of neuromuscular imaging in inherited muscle diseases and provide diagnostic algorithms that might guide us through the differential diagnosis in hereditary myopathies.
Journal ArticleDOI
Distinct muscle imaging patterns in myofibrillar myopathies
Dirk Fischer,Rudolf A. Kley,K. Strach,Carsten Meyer,Torsten Sommer,K. Eger,Arndt Rolfs,W. Meyer,A. Pou,J. Pradas,Christoph M. Heyer,A. Grossmann,Angela Huebner,Wolfram Kress,Jens Reimann,Rolf Schröder,Bruno Eymard,Michel Fardeau,Bjarne Udd,Lev G. Goldfarb,Matthias Vorgerd,Montse Olivé +21 more
TL;DR: Comparing muscle imaging findings in different subtypes of myofibrillar myopathies in order to identify characteristic patterns of muscle alterations that may be helpful to separate these genetic heterogeneous muscular disorders is compared.
Journal ArticleDOI
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
Marina L. Kennerson,Marina L. Kennerson,Garth A. Nicholson,Garth A. Nicholson,Stephen G. Kaler,Bartosz Kowalski,Julian F.B. Mercer,Jingrong Tang,Roxana M. Llanos,Shannon Chu,Reinaldo I. Takata,Carlos E. Speck-Martins,Jonathan Baets,Leonardo Almeida-Souza,Dirk Fischer,Vincent Timmerman,Philip E. Taylor,Steven S. Scherer,Toby A. Ferguson,Thomas D. Bird,Thomas D. Bird,Peter De Jonghe,Shawna M. E. Feely,Michael E. Shy,James Y. Garbern +24 more
TL;DR: It is demonstrated here that certain missense mutations at this locus can cause a syndrome restricted to progressive distal motor neuropathy without overt signs of systemic copper deficiency.
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Quantifying fat replacement of muscle by quantitative MRI in muscular dystrophy
Jedrzej Burakiewicz,Christopher D. J. Sinclair,Dirk Fischer,Dirk Fischer,Glenn A. Walter,Hermien E. Kan,Kieren G. Hollingsworth +6 more
TL;DR: The importance of the outcome measures is considered, the considerations required to make robust measurements and appropriate quality assurance measures are discussed, and the existing literature for cross-sectional and longitudinal cohort studies using these methods in muscular dystrophy is drawn together.
Journal ArticleDOI
Myotilinopathy : refining the clinical and myopathological phenotype
TL;DR: The Spanish cohort, the largest group of patients studied so far, shares phenotypic features with both LGMD1A and MFM/MYOT variants thus establishing a continuum of phenotypesic manifestations characteristic of myotilinopathy, an emerging neuromuscular disorder.