Results 131 to 140 of about 642,345 (268)

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

The Effect of Activating the Scapular Muscles During Warm-up on Shoulder Function and Baseball Pitching Performance in Male Adult Baseball Players: An Approach Using Electric Muscle Stimulation. [PDF]

Orthop J Sports Med
Nishino K, Okamura N, Sekine H, Abe K, Yamamoto N.   +4 more
europepmc   +1 more source

Formal and Informal Social Care in People With Rheumatic and Musculoskeletal Diseases: A Cross‐Sectional Multicenter Survey

Arthritis Care &Research, EarlyView.
Objective Rheumatic and musculoskeletal diseases (RMDs) are leading causes of physical disability, necessitating support with activities of daily living. This study describes social care received by patients with RMDs in two disparate regions of England: Salford (urban) and Norfolk (rural).
Mehreen Somro, Karen Durrant, William G. Dixon, John McBeth, Alex MacGregor, Max Yates, Jenny H. Humphreys   +6 more
wiley   +1 more source

Sustained Activation of CaMKII Promotes Skeletal Muscle Contractile Dysfunction in Aging. [PDF]

Aging Cell
Bene MR, Chung T, Luczak ED, Lopez-Cecetaite G, Fountain WA, Rosales-Soto G, Hernández-Ochoa E, Antonescu C, Florea L, Jeong SJ, Elassal E, Le A, Xue QL, Hoke A, Abadir PM, Wang Q.   +15 more
europepmc   +1 more source

Associations of Rheumatoid Arthritis Disease Activity With Frailty Over Five Years of Follow‐up

Arthritis Care &Research, EarlyView.
Objective To evaluate whether rheumatoid arthritis (RA) disease activity is associated with frailty both in cross‐section and longitudinally. Methods Participants within the Veterans Affairs Rheumatoid Arthritis (VARA) registry enrolled from 2003 to 2022 were included.
Courtney N. Loecker, Yangyuna Yang, Punyasha Roul, Aaron Baraff, Myra S. Schmaderer, Lani Zimmerman, Kaleb Michaud, Namrata Singh, Grant W. Cannon, Gary Kunkel, Ted R. Mikuls, Ariela R. Orkaby, Joshua F. Baker, Bryant R. England, Katherine D. Wysham   +14 more
wiley   +1 more source

Unmasking Orbital Myopathy: When Enlarged Extraocular Muscles Indicate More Than Thyroid Eye Disease: Report of Two Cases. [PDF]

Case Rep Ophthalmol Med
Shinohara D, Abumanhal M, Takahashi Y.
europepmc   +1 more source

Pain and Patient‐Reported Physical Function Did Not Differ Among Body Composition Profiles in Patients With Hip Osteoarthritis

Arthritis Care &Research, EarlyView.
Objective To explore whether higher body fat and lower lean mass are associated with greater pain and worse patient‐reported physical function in individuals with hip osteoarthritis (OA). A secondary aim was to examine whether pain and patient‐reported physical function differ according to four body composition profiles: high body fat, low lean mass ...
Alexandra Ryan, Boliang Wang, Fiona Dobson, Ben Kirk, Travis Haber, Kim L. Bennell, Shirley P. Yu, Kim Allison, Ricardo J. S. Costa, Gabrielle Knox, Michelle Hall   +10 more
wiley   +1 more source

Targeted knockdown of Smn in muscle stem cells induces non-cell autonomous loss of motor neurons. [PDF]

Brain
Mecca J, Mignot J, Gervais M, Ozturk T, Astord S, Berthier J, Bauché S, Messéant J, Biferi MG, Rouard H, Barkats M, Relaix F, Didier N.   +12 more
europepmc   +1 more source

Characteristics and Outcomes of Male Participants in a Multicenter Longitudinal Australian Study Cohort

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to determine the differences in demographic, serologic, and clinical characteristics between male and female patients with systemic sclerosis (SSc) in an Australian cohort. Methods This was a retrospective observational study using data from the Australian Scleroderma Cohort Study.
Emily Lin, Dylan Hansen, Laura Ross, Gene‐Siew Ngian, Susanna Proudman, Gabor Major, Maryam Tabesh, Mandana Nikpour, Jennifer Walker, Lauren Host, Nava Ferdowsi, Alannah Quinlivan, Wendy Stevens, Joanne Sahhar, Diane Apostolopoulos   +14 more
wiley   +1 more source

Quantitative Muscle MRI Fat Fraction as a Biomarker of Disease Severity in Mitochondrial Myopathies. [PDF]

J Cachexia Sarcopenia Muscle
Bermejo-Moriñigo A, Martín-Jiménez P, González-Méndez V, Bermejo-Guerrero L, Ochoa LE, Martín-Arriscado C, Alcalá-Galiano A, Casado-Pérez C, Navarro-Riquelme M, Garrido-Moraga R, González Quintana A, Blázquez A, Domínguez-González C.   +12 more
europepmc   +1 more source