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Andreas Hentschel
Andreas Hentschel
Leibniz Institute for Neurobiology
Skeletal muscle
Muscle biopsy
Medicine
MAP2K2
Myogenesis
4
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5
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Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.
2021
The Journal of Pathology
Andrea Gangfuß
Artur Czech
Andreas Hentschel
Ute Münchberg
Rita Horvath
Ana Töpf
Emily OHeir
Hanns Lochmüller
Florian Stehling
Cordula Kiewert
Albert Sickmann
Alma Kuechler
Frank J. Kaiser
Heike Kölbel
Jon Christiansen
Ulrike Schara-Schmidt
Andreas Roos
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Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.
2021
International Journal of Molecular Sciences
Frederik Braun
Andreas Hentschel
Albert Sickmann
Theodore Marteau
Swantje Hertel
Fabian Förster
Holger Prokisch
Matias Wagner
Saskia B. Wortmann
Adela Della Marina
Heike Kölbel
Andreas Roos
Ulrike Schara-Schmidt
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Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1).
2021
European Journal of Human Genetics
Ana Töpf
Angela Pyle
Helen Griffin
Leslie Matalonga
Katherine Schon
Solve-RD DITF-euroNMD
Albert Sickmann
Ulrike Schara-Schmidt
Andreas Hentschel
Patrick F. Chinnery
Heike Kölbel
Andreas Roos
Rita Horvath
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Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients.
2021
Journal of neuromuscular diseases
Valentina Grande
Denisa Hathazi
Emily O′Connor
Theo Marteau
Ulrike Schara-Schmidt
Andreas Hentschel
Geneviève Gourdon
Nikoletta Nikolenko
Hanns Lochmüller
Andreas Roos
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