Results 241 to 250 of about 37,969 (302)

The Integrated Approach in Patients with Spinal Muscular Atrophy in the Era of Early Diagnosis, Etiopathogenic Therapies and Multidisciplinary Standards of Care and Rehabilitation Interventions Leads to New Phenotypes. [PDF]

Life (Basel)
Leanca MC, Mirea A, Nicolae G, Capitanescu A, Munteanu C, Onose G.   +5 more
europepmc   +1 more source

Noninvasive Disease Diagnostics: The Swiss Contribution Highlights to Breath Analysis Research

Helvetica Chimica Acta, EarlyView.
Breath analysis networks across Switzerland linking health monitoring, clinical applications, population studies, and data‐driven public health decisions. ABSTRACT To celebrate the 125th anniversary of the Swiss Chemical Society, we present a review and perspective to highlight the recent research in breath analysis that has been conducted in ...
Stefan James Swift, Kseniya Dryahina, Patrik Španěl, Flora Kontopidou, Christos Kokkotis, Renato Zenobi, Stamatios Giannoukos   +6 more
wiley   +1 more source

Clinical-pathologic classification of anti-HMGCR-positive immune-mediated necrotizing myopathy. [PDF]

Sci Rep
Cao Y, Li W, He X, Liao M, Hu K, Wu S, Zhang X, Liao Q, Shen Z, Liang Z, Zheng C, Zhong Z, Jiang H, Huang Q, Zheng H.   +14 more
europepmc   +1 more source

Risk factors for carnitine deficiency in critically ill adults: A descriptive cross‐sectional study

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Background Critical illness is a risk factor for carnitine deficiency. Carnitine deficiency may result in serious medical complications and poor clinical outcomes. This study aimed to identify the prevalence and potential predictors of carnitine deficiency.
Jennifer Gordon, Rebecca Brody, Hamed Samavat, Mireille Hamdan, Alexander L. Colonna, Jason B. Young, Laura D. Byham‐Gray   +6 more
wiley   +1 more source

Longitudinal evaluation of fatigue in adult patients with spinal muscular atrophy and the impact of disease-modifying drugs. [PDF]

Arq Neuropsiquiatr
Graça FFD, Iwabe C, França MC.
europepmc   +1 more source

Targeting Astrocytic Connexin 43 Mitigates Glutamate-Driven Motor Neuron Stress in Late-Onset Spinal Muscular Atrophy. [PDF]

Cells
Salmanian S, Schmitt LI, Liebig KC, Hezel S, Roos A, Schara-Schmidt U, Kleinschnitz C, Leo M, Hagenacker T.   +8 more
europepmc   +1 more source

The Diagnostic Potential of Urinary Titin Fragment in Neuromuscular Diseases. [PDF]

Int J Mol Sci
Sipos A, Varga D, Pál E.
europepmc   +1 more source

Intracellular amyloidosis in peripheral nerve and skeletal muscle. [PDF]

J Neuropathol Exp Neurol
Grafham GK, Mak G, Grant S, Murphy A, Baker SK, Tarnopolsky M, Lu JQ.   +6 more
europepmc   +1 more source

Selenoprotein N and SEPN1-Related Myopathies: Mechanisms, Models, and Therapeutic Perspectives. [PDF]

Biomolecules
Lanza M, Zito E, Dinoi G, Buono AV, De Luca A, Imbrici P, Liantonio A, Conte E.   +7 more
europepmc   +1 more source