Results 61 to 70 of about 1,745 (185)

Evolving Real‐World Data and Evidence Use for New Drugs and Regenerative Medical Products Approvals in Japan—An Analysis of the 6‐Year Trend

Clinical Pharmacology &Therapeutics, Volume 118, Issue 6, Page 1405-1421, December 2025.
Several regulatory initiatives have been made to clarify the acceptability and requirements of real‐world data and real‐world evidence (RWD/E) for the benefit/risk assessment of new medical products in Japan. The objectives of this review were to characterize the use of RWD/E in regulatory applications of new medical products and to describe the ...
Suguru Okami, Kako Shimotsumagari, Yasunari Sadatsuki   +2 more
wiley   +1 more source

Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy.

PLoS ONE, 2014
Tibial muscular dystrophy (TMD) is a late onset, autosomal dominant distal myopathy that results from mutations in the two last domains of titin. The cascade of molecular events leading from the causative Titin mutations to the preterm death of muscle ...
Mark Screen, Olayinka Raheem, Jeanette Holmlund-Hampf, Per Harald Jonson, Sanna Huovinen, Peter Hackman, Bjarne Udd   +6 more
doaj   +1 more source

Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models. [PDF]

Eur J Hum Genet
\ua9 The Author(s) 2025.Heat shock protein family B (small) member 8 (HSPB8) promotes chaperone-assisted selective autophagy (CASA), which assures proteostasis in muscles and neurons.
Tedesco B, Peric S, Kocak GS, Tan J, Duong H, Töpf A, Rakocevic-Stojanovic V, Milenkovic S, Parkhurst Y, Gibbs L, Martin-Rios A, Lambiase PD, Guttmann OP, Marini-Bettolo C, Harris E, Harms MB, Ivanovic V, Marchesi V, Milone M, Timmerman V, Straub V, Poletti A, Kimonis V.   +22 more
europepmc   +3 more sources

MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form [PDF]

, 2020
n/
Cassandrini, Denise, Cinnante, Claudia, Ciscato, Patrizia, Comi, Giacomo P., Conte, Giorgio, Fagiolari, Gigliola, Grimoldi, Nadia, Lerario, Alberto, Pagliarani, Serena, Peverelli, Lorenzo, Santorelli, Filippo M., Sciacco, Monica, Telese, Roberta   +12 more
core   +1 more source

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P [PDF]

, 2017
In 1965, an adult-onset, autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy was described in a large, multi-generation kindred and named ‘scapuloperoneal syndrome type Kaeser' (OMIM #181400).
Born, C., Bulst, S., Fischer, D., Frey, J. R., Huebner, A., Klutzny, U., Krause, K. H., Kress, W., Lochmüller, H., Reilich, P., Schoser, B. G., Schröder, R., Vorgerd, M., Walter, M. C.   +13 more
core  

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene [PDF]

, 2021
Background and Objectives To determine the genetic cause of the disease in the previously reported family with adult-onset autosomal dominant distal myopathy (myopathy, distal, 3; MPD3).
Arumilli, Meharji, Auranen, Mari, Donner, Kati, Hackman, Peter, Johari, Mridul, Jonson, Per Harald, Koivunen, Sampo, Lahermo, Päivi, Luque, Helena, Mahjneh, Ibrahim, Rusanen, Salla M., Sarparanta, Jaakko, Savarese, Marco, Soininen, Merja, Udd, Bjarne, Vihola, Anna   +15 more
core   +2 more sources

MyomiRs Expression in Limb Girdle Muscular Dystrophy

IUBMB Life, Volume 77, Issue 10, October 2025.
ABSTRACT This manuscript is a comprehensive review focused on the role of microRNAs (miRs)—short RNA molecules—in Limb Girdle Muscular Dystrophy (LGMD). LGMD encompasses various and heterogeneous rare genetic neuromuscular diseases, characterized by the progressive wasting and deterioration of muscle fibers, predominantly affecting the pelvic and ...
G. Breveglieri, M. T. Altieri, M. T. Rodia, R. Costa, F. Frabetti, G. Cenacchi, G. Sabbioni, M. Borgatti   +7 more
wiley   +1 more source

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients [PDF]

, 2017
Mutations in the filamin C gene (FLNC) cause a myofibrillar myopathy (MFM), morphologically characterized by focal myofibrillar destruction and abnormal accumulation of several proteins within skeletal muscle fibres.
Brodherr, Turgut, Bruchertseifer, Vera, Eger, Katharina, Fischer, Dirk, Fürst, Dieter O., Germing, Alfried, Hellenbroich, Yorck, Heyer, Christoph M., Huebner, Angela, Ketelsen, Uwe-Peter, Kirschner, Janbernd, Kley, Rudolf A., Lochmüller, Hanns, Müller, Klaus, Peters, Sören A., Reum, Conny, Schröder, Rolf, Tolksdorf, Karen, van der Ven, Peter F. M., Vorgerd, Matthias, Walter, Maggie C.   +20 more
core  

Molecular markers for granulovacuolar degeneration are present in rimmed vacuoles.

PLoS ONE, 2013
BackgroundRimmed vacuoles (RVs) are round-oval cytoplasmic inclusions, detected in muscle cells of patients with myopathies, such as inclusion body myositis (IBM) and distal myopathy with RVs (DMRV).
Masahiro Nakamori, Tetsuya Takahashi, Tomokazu Nishikawa, Yu Yamazaki, Takashi Kurashige, Hirofumi Maruyama, Koji Arihiro, Masayasu Matsumoto   +7 more
doaj   +1 more source

Sporadic inclusion body myositis : an acquired mitochondrial disease with extras [PDF]

, 2019
The sporadic form of inclusion body myositis (IBM) is the most common late-onset myopathy. Its complex pathogenesis includes degenerative, inflammatory and mitochondrial aspects.
De Paepe, Boel
core   +1 more source