Results 21 to 30 of about 1,350,741 (373)

Spinal muscular atrophy (SMA) from the urological point of view: Assessment of the urinary function in 38 patients

open access: yesCogent Medicine, 2020
Spinal muscular atrophy (SMA) includes genetic heterogeneous diseases characterized by muscle weakness and atrophy. There are at least two risk factors for SMA patients to develop urinary dysfunctions: 1) the neural degeneration, that influences the ...
Francesca Destro   +4 more
doaj   +1 more source

Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy [PDF]

open access: yes, 2013
BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disease resulting from mutations in the survival motor neuron 1 (SMN1) gene. Recent breakthroughs in preclinical research have highlighted several potential novel therapies for SMA, increasing ...
Gillingwater, T. H.   +4 more
core   +3 more sources

Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 ( SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA).

open access: yesJournal of Medicinal Chemistry, 2018
SMA is an inherited disease that leads to loss of motor function and ambulation and a reduced life expectancy. We have been working to develop orally administrated, systemically distributed small molecules to increase levels of functional SMN protein ...
H. Ratni   +27 more
semanticscholar   +1 more source

Operational Risk framework and Standardised Measurement Approach (SMA) [PDF]

open access: yesRisk Management Magazine, 2023
On December 2017, the Basel Committee published the “Basel III: Finalising post-crisis reforms” (also known as Basel IV) that introduces the Standardised Measurement Approach (SMA) to define the Pillar I operational risk capital requirement that is ...
Paolo Fabris   +2 more
doaj   +1 more source

ANALISIS SMA NEGERI BERPRESTASI DIBIDANG EKSTRAKURIKULER FUTSAL KOTA BENGKULU

open access: yesKinestetik, 2017
Penelitian ini bertujuan untuk mengetahui prestasi ekstrakurikuler futsal. Metode yang digunakan adalah metode penelitian deskriptif. Subjek penelitian adalah 9 Sekolah Menengah Atas Negeri di Kota Bengkulu. Instrumen dari penelitian ini yaitu Observasi,
Faisal Mandala Siregar   +2 more
doaj   +1 more source

Kinetostatics of a Robotic Prehension Device Driven by Shape Memory Alloy Elements [PDF]

open access: yesRobotica & Management, 2023
This paper presents the kinetostatic calculus for a robotic prehension device driven by shape memory alloy elements. The constructive-functional scheme is presented, as well as the forces that occur in the prehension process.
Daniel-Gheorghe Vela   +2 more
doaj   +1 more source

Gastric perforation and pancreatitis manifesting after an inadvertent nissen fundoplication in a patient with superior mesenteric artery syndrome. [PDF]

open access: yes, 2009
Superior mesenteric artery (SMA) syndrome is an uncommon but well-recognized clinical entity. It can lead to proximal small bowel obstruction and severe morbidity and mortality in lieu of late diagnosis and concomitant existing comorbidities. We report a
Estrada, JJ   +5 more
core   +3 more sources

PROFIL KEMAMPUAN INTERPRETASI GRAFIK KINEMATIKA SISWA SMA KELAS X

open access: yesGravity: Jurnal Ilmiah Penelitian dan Pembelajaran Fisika, 2017
Graphic interpretation is an important part of studying science. Graph interpretation is part of a representation that shows students' conceptual understanding.
Yustiandi Yustiandi, Duden Saepuzaman
doaj   +1 more source

Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy [PDF]

open access: yes, 2016
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein, primarily affecting lower motor neurons. Recent evidence from SMA and related conditions suggests that glial cells can influence disease severity.
Brophy, Peter J.   +9 more
core   +3 more sources

Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 – A Prospective Observational Study

open access: yesJournal of Neuromuscular Diseases, 2019
Objective: Spinal muscular atrophy (SMA) is a progressive autosomal recessive motor neuron disease caused by loss of the SMN1 gene. Based on randomized clinical trials in children with SMA type 1 and 2, Nusinersen has been approved as the first treatment
M. Walter   +10 more
semanticscholar   +1 more source

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