Results 171 to 180 of about 164,819 (283)

Myopathy as the Initial Manifestation of Primary Amyloidosis [PDF]

, 2011
Julia Keith, Z. Afshar-Ghotli, R. Roussev, BP Ernst, Brandyn Young, Jorge Bilbao   +5 more
openalex   +1 more source

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

Neurology, 2016
R. Ghaoui, J. Palmio, J. Brewer, M. Lek, M. Needham, A. Evilä, P. Hackman, P. Jonson, S. Penttilä, A. Vihola, S. Huovinen, M. Lindfors, R. Davis, L. Waddell, S. Kaur, C. Yiannikas, K. North, N. Clarke, D. MacArthur, C. Sue, B. Udd   +20 more
semanticscholar   +1 more source

Recumbent FES‐Cycling Exercise Improves Muscle Performance and Ambulation Capacity in Hospitalized Patients: A Randomized Controlled Trial

Artificial Organs, EarlyView.
Both groups received the usual routine hospital care. Beyond usual care, the intervention group received the high‐intensity, low‐volume FES‐cycling exercise protocol. Study highlights are as follows: (1) High‐intensity, low‐volume FES‐cycling exercise increased strength, power, and neuromuscular efficiency. (2) Ambulation capacity improved threefold in
Murillo Frazão, Fábio de Lima Martins, Gerson Cipriano Jr   +2 more
wiley   +1 more source

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations

Clinical Genetics, EarlyView.
Biallelic COL4A2 variants cause a spectrum of brain abnormalities such as brain small vessel disease (BSVD). We describe two cases—one with cerebrovascular disruption and one with cortical malformations—expanding the recessive phenotype. Protein modeling reveals destabilization by p.(Arg179Cys), reinforcing its pathogenic role and highlighting collagen
Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, Reihaneh Khorasanian, Mariasavina Severino, Morteza Doustmohammadi, Francesca Madia, Siddharth Srivastava, Aisling Quinlan, Dario Paladini, Federico Zara, Marcello Scala   +11 more
wiley   +1 more source

Sex-dependent and muscle-specific progression of the MYBPC1 E248K Myotrem myopathy in response to aging [PDF]

Jennifer Mariano, Humberto C. Joca, Jacob G. Kallenbach, Natasha Ranu, Julien Ochala, Christopher W. Ward, Aikaterini Kontrogianni‐Konstantopoulos   +6 more
openalex   +1 more source

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

Clinical Genetics, EarlyView.
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, Pål Marius Bjørnstad, Mari Elen Strand, Vivian Cecilie Orszagh, Uffe Birk Jensen, Eirik Frengen   +7 more
wiley   +1 more source

Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis

, 2020
Arda Yavuz, Gökçen Ünverengil, Ayşe Nur Toksöz Yıldırım, Hatice Şeyma Maraşlı, İlyas Tuncer   +4 more
openalex   +2 more sources

Pembrolizumab induced bulbar myopathy and respiratory failure with necrotizing myositis of the diaphragm [PDF]

, 2016
Candace L. Haddox, Niraj Shenoy, Kejal Shah, J. C. Kao, Shikha Jain, Þorvarður R. Hálfdánarson, Eelco F. M. Wijdicks, Moritz Goetz   +7 more
openalex   +1 more source

LCN2‐ACOD1 Signalling Affects the Post‐Injury Regeneration of Skeletal Muscle Through Mediating Ferroptosis

Cell Proliferation, EarlyView.
LCN2 mediates the suppression of C2C12 myoblast proliferation and myotube formation via erastin‐induced ferroptosis. Mechanistically, the LCN2‐ACOD1 axis regulates skeletal muscle growth via mitochondria‐associated ferroptosis, providing a theoretical basis for the prevention and therapy of muscle‐related diseases.
Xiaojing Hao, Hongwei Shi, Di Wu, Rui Liang, Tong Zhao, Wen Sun, Yue Wang, Xiuju Yu, Xiaomao Luo, Yi Yan, Jiayin Lu, Haidong Wang, Juan Wang   +12 more
wiley   +1 more source

Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder

Developmental Medicine &Child Neurology, EarlyView.
In children potentially fulfilling the criteria for developmental coordination disorder (DCD), phenotypical assessment does not sufficiently predict the diagnostic outcome (i.e. DCD or an alternative diagnosis). Due to the lack of distinguishing clinical and diagnostic features and the high prevalence of genetic diagnoses in these patients, additional ...
Martinica Garofalo, Fleur Vansenne, Jessika F. van Hoorn, Marina A. J. Tijssen, Dineke S. Verbeek, Deborah A. Sival   +5 more
wiley   +1 more source