Results 81 to 90 of about 116,027 (330)

Clinical decision making around commercial use of gene and genetic therapies for spinal muscular atrophy

Neurotherapeutics
Spinal muscular atrophy is no longer a leading cause of inherited infant death in the United States. Since 2016, three genetic therapies have been approved for the treatment of spinal muscular atrophy.
Megan A. Waldrop
doaj   +1 more source

The TUDOR domain of SMN is an H3K79 me1 histone mark reader

Life Science Alliance, 2023
The survival of motor neuron (SMN) protein is depleted in spinal muscular atrophy (SMA) pathology and herein defined as the first reader of histone H3 mono-methylated on lysine 79 through its central TUDOR domain.
Olivier Binda, Aimé Boris Kimenyi Ishimwe, Maxime Galloy, Karine Jacquet, Armelle Corpet, Amélie Fradet-Turcotte, Jocelyn Côté, Patrick Lomonte   +7 more
doaj   +1 more source

Neuromuscular magnetic stimulation counteracts muscle decline in ALS patients: results of a randomized, double-blind, controlled study [PDF]

, 2019
The aim of the study was to verify whether neuromuscular magnetic stimulation (NMMS) improves muscle function in spinal-onset amyotrophic lateral sclerosis (ALS) patients.
Cambieri, Chiara, Ceccanti, Marco, Cerbelli, Bruna, Cifelli, Pierangelo, Cristina Gori, Maria, Dobrowolny, Gabriella, Frasca, Vittorio, Giordano, Carla, Inghilleri, Maurizio, Lepore, Elisa, Musaro', Antonio, Onesti, Emanuela, Palma, Eleonora, Pisano, Annalinda, Roseti, Cristina, Ruffolo, Gabriele   +15 more
core   +1 more source

Update on Biomarkers in Spinal Muscular Atrophy

Biomarker Insights, 2021
The availability of disease modifying therapies for spinal muscular atrophy (SMA) has created an urgent need to identify clinically meaningful biomarkers. Biomarkers present a means to measure and evaluate neurological disease across time.
Megan G Pino, Kelly A. Rich, S. Kolb
semanticscholar   +1 more source

Association Between Motor Pathway Damage and Motor Deficit in Upper and Lower Limb in People With MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Corticospinal tract damage is common in people with MS, but the degree of clinical symptoms varies. We hypothesize that corticospinal tract lesions are more extensive and severe in people with MS with motor impairments in both upper and lower limbs.
Mathilde Liffran, Malo Gaubert, Alice Dufey, Elise Bannier, Audrey Rico, Jean‐Christophe Ferré, Raphaël Chouteau, Laure Michel, Emmanuelle Le Page, Virginie Callot, Bertrand Audoin, Sarah Demortière, Benoît Combès, Anne Kerbrat   +13 more
wiley   +1 more source

SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy [PDF]

, 2015
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 ...
Annalisa Nobili, Antonio Musarò, Arnold, Biamonte, Bianchi, Bielli, Bielli, Bose, Branchu, Bricceno, Burnett, Bäumer, Cai, Chen, Cho, Claudio Sette, Ehrmann, Feng, Fu, Galarneau, Hofmann, Hofmann, Hua, Huot, Iascone, Iijima, Kashima, Kashima, Laura Pelosi, Le, Li, Ling, Lorson, Lukong, Mammucari, Marcello D’Amelio, Maria Blaire Bustamante, Maria Grazia Berardinelli, Mende, Nurputra, Paronetto, Paronetto, Pedrotti, Pedrotti, Richard, Ruggiu, Shababi, Singh, Vittoria Pagliarini, Wahl, West, Zhang   +51 more
core   +2 more sources

Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy.

Journal of Hepatology, 2020
BACKGROUND AND AIMS Spinal muscular atrophy (SMA) is an autosomal recessive, childhood-onset motor neuron disease, fatal in its most severe forms. In addition to neuromuscular degeneration, organ involvement, including the liver, may also be present ...
D. Chand, F. Mohr, H. McMillan, Francis Fonyuy Tukov, K. Montgomery, A. Kleyn, Rui Sun, S. Tauscher‐Wisniewski, P. Kaufmann, G. Kullak-Ublick   +9 more
semanticscholar   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Insights into spinal muscular atrophy from molecular biomarkers

Neural Regeneration Research
Spinal muscular atrophy is a devastating motor neuron disease characterized by severe cases of fatal muscle weakness. It is one of the most common genetic causes of mortality among infants aged less than 2 years. Biomarker research is currently receiving
Xiaodong Xing, Xinzhu Liu, Xiandeng Li, Mi Li, Xian Wu, Xiaohui Huang, Ajing Xu, Yan Liu, Jian Zhang   +8 more
doaj   +1 more source

Anaesthetic Management of Spinal Muscular Atrophy For Laparoscopic Cholecystectomy [PDF]

The Indian Anaesthetists' Forum, 2006
We report the anaesthetic management of a female patient with Spinal Muscular Atrophy (SMA) presented for laparoscopic cholecystectomy. In order to avoid prolonged recovery; we chose to use total intravenous anaesthesia (TIVA) with propofol and ...
Dr. E. Argyra / Dr. C. Staikou / Dr. G. Polymeneas / Dr. C. M. Markatou
doaj