Systemic cell therapy for muscular dystrophies: The ultimate transplantable muscle progenitor cell and current challenges for clinical efficacy
CRM Ausems, BGM van Engelen… - Stem Cell Reviews and …, 2021 - Springer
The intrinsic regenerative capacity of skeletal muscle makes it an excellent target for cell
therapy. However, the potential of muscle tissue to renew is typically exhausted and …
therapy. However, the potential of muscle tissue to renew is typically exhausted and …
Myopathies with finger flexor weakness: not only inclusion‐body myositis
Muscle disorders are characterized by differential involvement of various muscle groups.
Among these, weakness predominantly affecting finger flexors is an uncommon pattern …
Among these, weakness predominantly affecting finger flexors is an uncommon pattern …
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4
DnaJ homolog, subfamily B, member 4, a member of the heat shock protein 40 chaperones
encoded by DNAJB4, is highly expressed in myofibers. We identified a heterozygous c. 270 …
encoded by DNAJB4, is highly expressed in myofibers. We identified a heterozygous c. 270 …
Bi-allelic truncating mutations in VWA1 cause neuromyopathy
M Deschauer, H Hengel, K Rupprich, M Kreiß… - Brain, 2021 - academic.oup.com
Abstract The von Willebrand Factor A domain containing 1 protein, encoded by VWA1, is an
extracellular matrix protein expressed in muscle and peripheral nerve. It interacts with …
extracellular matrix protein expressed in muscle and peripheral nerve. It interacts with …
Guidelines for genetic testing of muscle and neuromuscular junction disorders
Despite recent advances in the understanding of inherited muscle and neuromuscular
junction diseases, as well as the advent of a wide range of genetic tests, patients continue to …
junction diseases, as well as the advent of a wide range of genetic tests, patients continue to …
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations
M Savarese, J Palmio, JJ Poza, J Weinberg… - Annals of …, 2019 - Wiley Online Library
Objective To clinically and pathologically characterize a cohort of patients presenting with a
novel form of distal myopathy and to identify the genetic cause of this new muscular …
novel form of distal myopathy and to identify the genetic cause of this new muscular …
Diagnostic yield of advanced genetic testing in patients with hereditary neuropathies: A retrospective single‐site study
KJ Felice, CH Whitaker, S Khorasanizadeh - Muscle & Nerve, 2021 - Wiley Online Library
Abstract Introduction/Aims Advanced genetic testing including next‐generation sequencing
(AGT/NGS) has facilitated DNA testing in the clinical setting and greatly expanded new gene …
(AGT/NGS) has facilitated DNA testing in the clinical setting and greatly expanded new gene …
Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions
Myopathy refers to a large group of heterogeneous, rare muscle diseases. Bulk RNA-
sequencing has been utilized for the diagnosis and research of these diseases for many …
sequencing has been utilized for the diagnosis and research of these diseases for many …
Distal myopathy
M Savarese, M Jokela, B Udd - Handbook of Clinical Neurology, 2023 - Elsevier
Distal myopathies are a group of genetic, primary muscle diseases. Patients develop
progressive weakness and atrophy of the muscles of forearm, hands, lower leg, or feet …
progressive weakness and atrophy of the muscles of forearm, hands, lower leg, or feet …
Current advance on distal myopathy genetics
J Ranta-Aho, M Johari, B Udd - Current Opinion in Neurology, 2024 - journals.lww.com
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