Results 1 to 10 of about 393,528 (292)

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Riolo G, Dosi C, Parravicini S, Zanin R, Cheli M, Grigoli EG, Canciello A, Andreetta F, Masson R, Bonanno S, Marcuzzo S, Maggi L.   +11 more
europepmc   +2 more sources

Delayed diagnosis and genetic testing in spinal muscular atrophy: a case series. [PDF]

Ann Med
Guo X, Luo Y, Li M, Li C, Chang Z, Zhu S, Wang Q, Huang Y.   +7 more
europepmc   +1 more source

Neurofilaments in cerebrospinal fluid and/or serum as a possible biomarker of pediatric spinal muscular atrophy. [PDF]

J Neuromuscul Dis
Kumhera M, Vrsčaj E, Loboda T, Osredkar D, Holotová P, Rohlenová M, Lauerová B, Jurášová V, Hanzalová J, Pavlíková M, Haberlová J.   +10 more
europepmc   +1 more source

Humanistic and Economic Burden of Spinal Muscular Atrophy in the Gulf Region. [PDF]

Cureus
Elezbawy B, Abaza S, Alnajjar A, Alabdulkarim H, Al-Omar HA, Fahmy S, Aldallal S, Ágh T, Fasseeh A.   +8 more
europepmc   +1 more source

Multi-Omics Landscape of Paraspinal Muscles in Spinal Muscular Atrophy With Scoliosis. [PDF]

J Cell Mol Med
Wang Z, Zhao J, Huang X, Chen W, Shen J.
europepmc   +1 more source

Addressing the Global Disparities in Access to Treatment in Spinal Muscular Atrophy. [PDF]

Muscle Nerve
Koutsioumpa C, Darras BT, Griggs RC, Roy B.   +3 more
europepmc   +1 more source

Serum p-tau181 and p-tau217 levels in adolescents and adults with 5q spinal muscular atrophy. [PDF]

J Neurol
Stapf CD, Uzelac Z, Iterbeke L, Guthknecht A, Barba L, Strube D, Kölsch A, Kleeberg K, Kendzierski T, Roos A, Steinacker P, Abu-Rumeileh S, Claeys KG, Weishaupt J, Mensch A, Otto M.   +15 more
europepmc   +1 more source

Frequency and Circumstances of Falls Events in People Living With Spinal and Bulbar Muscular Atrophy: A Cross-Sectional Survey. [PDF]

Physiother Res Int
Lee LE, Zampedri L, Jayaseelan D, Rinaldi C, Fratta P, Ramdharry GM.   +5 more
europepmc   +1 more source

Therapeutic advances in spinal muscular atrophy: a review of clinical, safety, and economic considerations. [PDF]

Front Pharmacol
Belančić A, Maria Gkrinia EM, Lam YW, Vitezić D.   +3 more
europepmc   +1 more source

Glymphatic Dysfunction in Children With Type 2 and 3 Spinal Muscular Atrophy. [PDF]

CNS Neurosci Ther
Lan S, Xiang P, Yan C, Nie H, Wang H, Xu B, Yang Z, Tang W, Li Y, Liang Y, Chen Y.   +10 more
europepmc   +1 more source