Results 71 to 80 of about 19,843 (235)

PTEN Depletion Decreases Disease Severity and Modestly Prolongs Survival in a Mouse Model of Spinal Muscular Atrophy. [PDF]

, 2015
Spinal muscular atrophy (SMA) is the second most common genetic cause of death in childhood. However, no effective treatment is available to halt disease progression. SMA is caused by mutations in the survival motor neuron 1 (SMN1) gene.
Araujo, Basil Sharrack, Bevan, Boon, Burghes, Chan, Chantal A Mutsaers, Chiara F Valori, Coovert, Daniel Little, Dominguez, El-Khodor, Ellen J Bennett, Foust, Foust, Gregorian, Groszer, Hamilton, Heier, Hua, Jablonka, Ke Ning, Le, Lefebvre, Ling, Liu, Lutz, Matthew Wyles, McWhorter, Mimoun Azzouz, Murray, Narver, Ning, Ning, Ning, Pamela J Shaw, Park, Perdigoto, Rossoll, Shababi, Stambolic, Stambolic, Sun, Thomas H Gillingwater, Thomson, Valori, Wang, Wishart, Zhang   +48 more
core   +1 more source

Diabetic Peripheral Neuropathy: Molecular Staging, Risk Factors, Therapeutics, and Emerging Trends

Med Research, EarlyView.
The heterogeneous landscape of DPN can be unified through a tripartite pathogenic model encompassing progressive stages of metabolic dysregulation, chronic inflammation, and overt neuronal damage. Within this framework, six clinical subtypes were identified, namely, hyperglycemia‐driven, dyslipidemia‐driven, inflammation‐driven, dysvascularity‐driven ...
Xiaofeng Dai, Mingze Tang
wiley   +1 more source

Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review

Muscle &Nerve, EarlyView.
ABSTRACT Motion sensing technology can be utilized to capture detailed upper extremity (UE) motion to reconstruct an individual's three‐dimensional (3D) reachable workspace (RWS). The RWS can be quantified as relative surface area (RSA), providing an innovative surrogate measure to assess UE mobility and function.
Jay J. Han, Lawrence J. Hayward, Christina Adams, Juan Perez‐Ibarra   +3 more
wiley   +1 more source

Establishing a standardized therapeutic testing protocol for spinal muscular atrophy

Neurobiology of Disease, 2006
Several mice models have been created for spinal muscular atrophy (SMA); however, there is still no standard preclinical testing system for the disease.
Li-Kai Tsai, Ming-Shung Tsai, Tzer-Bin Lin, Wuh-Liang Hwu, Hung Li   +4 more
doaj   +1 more source

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy [PDF]

, 2018
Deafferentation of motor neurons as a result of defective sensory-motor connectivity is a critical early event in the pathogenesis of spinal muscular atrophy, but the underlying molecular pathways remain unknown.
Boyd, Penelope J., Gillingwater, Thomas H., Groen, Ewout J. N., Lamont, Douglas J., Llavero Hurtado, Maica, Schiavo, Giampietro, Shorrock, Hannah K., Sleigh, James N., van der Hoorn, Dinja, Wirth, Brunhilde, Wishart, Thomas M.   +10 more
core   +4 more sources

Utility of Far‐Field Potentials as a Biomarker of Neurodegeneration in Spinal Muscular Atrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Far field potentials (FFP) have been proposed as a reliable neurophysiological prognostic biomarker in amyotrophic lateral sclerosis (ALS). This study evaluated the utility of ulnar nerve FFP as a robust research biomarker of lower motor neuron degeneration in spinal muscular atrophy (SMA).
Aicee Dawn Calma, Nathan Pavey, Cláudia Santos Silva, Yukiko Tsuji, Amirul Ab Ghapar, Katrina Morris, Matthew C. Kiernan, Michelle A. Farrar, Parvathi Menon, Steve Vucic   +9 more
wiley   +1 more source

Clinical research advance of therapeutic strategies for spinal muscular atrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscular weakness and atrophy caused by degeneration of brain stem and spinal cord motor neurons. SMA is common genetic neuromuscular disorder that
Jing LI, Cheng ZHANG
doaj  

Risdiplam Add‐On Therapy Following Onasemnogene Abeparvovec in Children With Spinal Muscular Atrophy and 2 SMN2 Copies: A Multi‐Center Case Series

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Three disease‐modifying therapies are approved for individuals with spinal muscular atrophy (SMA); however, data concerning the combination of these therapies remain limited. This study aimed to evaluate the safety and efficacy of add‐on risdiplam in children who had experienced clinical deterioration despite gene therapy ...
Corinna Stoltenburg, Klaus Goldhahn, Arpad von Moers, Angela M. Kaindl, Claudia Weiß   +4 more
wiley   +1 more source

PREGNANCY AND CHILDBIRTH IN A PATIENT WITH SPINAL MUSCULAR ATROPFY (CLINICAL CASE)

Мать и дитя в Кузбассе, 2020
Spinal muscle atrophy (SMA) is a group of diseases inherited by an autosomal recessive type and characterized by degeneration of cells of the anterior horns of the spinal cord.
Ирина Анатольевна Ушакова, Нонна Марковна Шибельгут, Игорь Анатольевич Гнусарев, Екатерина Владимировна Литовченко, Вадим Гельевич Мозес, Елена Владимировна Рудаева, Светлана Ивановна Елгина   +6 more
doaj  

Generation of a spinal muscular atrophy type III patient-specific induced pluripotent stem cell line ICGi003-A

Stem Cell Research, 2020
Spinal muscular atrophy (SMA) is a genetic disease, which characterized by the degeneration of motor neurons in the spinal cord and further striated muscle atrophy. The research of the processes in diseased neurons is complicated due to the impossibility
V.S. Ovechkina, M.A. Maretina, A.A. Egorova, V.S. Baranov, A.V. Kiselev, S.M. Zakian, K.R. Valetdinova   +6 more
doaj   +1 more source