Results 21 to 30 of about 134,576 (312)

The social-economic burden of spinal muscular atrophy in Russia

open access: yesФармакоэкономика, 2021
Introduction. Spinal muscular atrophies (SMA) are clinically and genetically heterogeneous congenital orphan diseases that lead to progressive spinal motoneurons degeneration and loss of their function. There are 4 types of SMA with type I being the most
A. S. Kolbin   +7 more
doaj   +1 more source

Changes in pNFH Levels in Cerebrospinal Fluid and Motor Evolution after the Loading Dose with Nusinersen in Different Types of Spinal Muscular Atrophy

open access: yesMedicina, 2023
Aim and Objectives: The objective of our retrospective study was to investigate the changes in pNFH levels in cerebrospinal fluid, which is a reliable marker of neuronal damage, after the loading dose of nusinersen in different types of spinal muscular ...
Mihaela Badina   +11 more
doaj   +1 more source

BONE HEALTH AND GROWTH IN SPINAL MUSCULAR ATROPHY TYPE 2 AND 3

open access: yesİstanbul Tıp Fakültesi Dergisi, 2022
Objective: Spinal muscular atrophy is a lower motor neuron disease, but other parts of the body could be affected. This study compared bone mineral density with bone metabolism and physical growth rates in patients diagnosed with spinal muscular atrophy ...
Osman Kipoğlu   +7 more
doaj   +1 more source

Nusinersen for spinal muscular atrophy [PDF]

open access: yesTherapeutic Advances in Neurological Disorders, 2018
Claudia D. Wurster, Albert C. Ludolph
openaire   +4 more sources

Exploratory Design of a Hands-free Video Game Controller for a Quadriplegic Individual [PDF]

open access: yes, 2021
From colored pixels to hyper-realistic 3D landscapes of virtual reality, video games have evolved immensely over the last few decades. However, video game input still requires two-handed dexterous finger manipulations for simultaneous joystick and trigger or mouse and keyboard presses.
arxiv   +1 more source

Safety and Tolerability of Strength Training in Spinal and Bulbar Muscular Atrophy: A Case Report

open access: yesJournal of Rehabilitation Medicine - Clinical Communications, 2022
Objective: Spinal and bulbar muscular atrophy is characterized by slow-progressive muscle weakness, decreased functional performance and falls. Research into the use of exercise in spinal and bulbar muscular atrophy has shown equivocal to negative ...
Vincent Shieh   +7 more
doaj   +1 more source

Proximal spinal muscular atrophy 5q in the Republic of North Ossetia – Alania: population-genetic features, diagnostic problems and treatment prospects

open access: yesНервно-мышечные болезни, 2022
This study presents the structure and population data of spinal muscular atrophy 5q in the Republic of North Ossetia – Alania. The number of newborns for the period 2000–2020 was 195 954, and the prevalence of spinal muscular atrophy 5q among newborns ...
I. S. Tebieva   +4 more
doaj   +1 more source

Therapeutic decisions under uncertainty for spinal muscular atrophy: The DECISIONS-SMA study protocol

open access: yesPLoS ONE, 2022
Background The therapeutic landscape for spinal muscular atrophy has changed in the last few years, encompassing respiratory/motor function and life expectancy benefits.
Gustavo Saposnik   +7 more
doaj   +2 more sources

Combined spinal-epidural anesthesia in a patient with spinal muscular atrophy type II undergoing cesarean section: A case report [PDF]

open access: yesVojnosanitetski Pregled, 2020
Introduction. Anesthetic management of a patient with spinal muscular atrophy type II, who underwent elective cesarean section with neuraxial anesthesia is presented in this case report. Case report.
Krušić Slavica   +2 more
doaj   +1 more source

Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients [PDF]

open access: yes, 2016
Objective: To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). Methods: 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal ...
Angelini, Lorenzo   +37 more
core   +1 more source

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