Results 61 to 70 of about 1,216 (116)

Clinical and Pathological Features of Childhood-Onset Nemaline Myopathy: A Report of Four Cases

Case Reports in Medicine, 2012
We examined whether immunological abnormalities can be found in the specimens of four childhood-onset nemaline myopathy (NM) patients without autoimmune diseases. Pathological examination revealed that nemaline rods were found in all specimens.
Chao Jiang, Jianping Wang, Haidong Lu
doaj   +1 more source

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

Muscle &Nerve, Volume 74, Issue 1, Page 121-130, July 2026.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu, Margaret McGurn, Susan Iannaccone, Zurisadai Gonzalez Castillo, Kaitlin Batley   +4 more
wiley   +1 more source

Sporadic late onset nemaline myopathy with monoclonal gammopathy of undetermined significance: two cases with long term stability

European Journal of Translational Myology, 2020
Monoclonal gammopathy of undetermined significance (MGUS) associated to sporadic late onset nemaline myopathy (SLONM) is a rare and severely disabling condition of quickly progressive limb girdle acquired myopathy.
André Truffert, Ruxandra Iancu Ferfoglia, Johannes Alexander Lobrinus, Kaveh Samii, André Kohler   +4 more
doaj   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Skeletal muscle‐specific myostatin overexpression promotes muscle oxidative capacity and fatigue resistance in transgenic mice

Experimental Physiology, Volume 111, Issue 7, Page 3357-3380, 1 July 2026.
Abstract In addition to controlling muscle mass, myostatin may support oxidative metabolism and endurance. Loss of function through gene knockout or post‐natal blockade generally lowers muscle oxidative capacity and increases fatigability. These observations imply that myostatin activation could promote a more oxidative and less fatigable muscle ...
Andy V. Khamoui, Andrea Abraham, Janos Porszasz, Istvan Kovanecz, Silvana Constantinescu, Harry B. Rossiter, Suzanne Reisz‐Porszasz   +6 more
wiley   +1 more source

Shoulder Rotation Test: A New Test for Discriminating Between Functional and Structural Weakness

Brain and Behavior, Volume 16, Issue 4, April 2026.
We introduce the shoulder rotation test, a simple bedside test combining the MRC scoring of shoulder internal rotation (IR) and external rotation (ER), for discriminating between functional weakness (FW) and structural weakness (SW) of the upper limbs.
Takamichi Kanbayashi, Masahiro Sonoo
wiley   +1 more source

A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy

, 2013
Nemaline rods are the pathologic hallmark of nemaline myopathy, but they have also been described as a secondary phenomenon in a variety of other disorders. Nemaline rods have not been reported in pyruvate carboxylase deficiency before. Here we present a
DURSUN, ALİ, ORHAN, DİCLEHAN, Wibrand, Flemming, Kalkanoglu-Sivri, H. Serap, TOKATLI, AYŞEGÜL, COŞKUN, TURGAY, ÖZTÜRK HİŞMİ, BURCU, Unal, Ozlem, Ostergaard, Elsebet   +8 more
core   +1 more source

In Vivo Function of the Chaperonin TRiC in α-Actin Folding during Sarcomere Assembly

Cell Reports, 2018
Summary: The TCP-1 ring complex (TRiC) is a multi-subunit group II chaperonin that assists nascent or misfolded proteins to attain their native conformation in an ATP-dependent manner.
Joachim Berger, Silke Berger, Mei Li, Arie S. Jacoby, Anders Arner, Navid Bavi, Alastair G. Stewart, Peter D. Currie   +7 more
doaj   +1 more source

CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6

Clinical Genetics, Volume 109, Issue 4, Page 772-777, April 2026.
CRISPR activation of NEB in fibroblasts, followed by RNA‐sequencing, documents spliceogenic effects of a NEB intronic variant. The assay enabled variant reclassification as likely pathogenic, providing molecular diagnosis in fetuses with Arthrogryposis multiplex congenita 6.
Doriana Misceo, Thorkild Terkelsen, Sara Margrete Bøen Keim, Pål Marius Bjørnstad, Mari Elen Strand, Vivian Cecilie Orszagh, Uffe Birk Jensen, Eirik Frengen   +7 more
wiley   +1 more source

Successful Bortezomib–Lenalidomide–Dexamethasone Therapy in a 72‐Year‐Old Patient With Sporadic Late‐Onset Nemaline Myopathy Associated With Monoclonal Gammopathy of Muscle Significance

Muscle &Nerve, Volume 74, Issue 3, Page 756-758, September 2026.
Hiroki Komatsu, Shogo Komaki, Meiko Maeda, Akatsuki Kubota, Mitsuhiro Yuasa, Mineo Kurokawa, Ryo Morishima, Satoko Uruha, Akinori Uruha, Ichizo Nishino, Masashi Hamada, Tatsushi Toda, Wataru Satake   +12 more
wiley   +1 more source