Results 81 to 90 of about 20,899 (290)

Psychological burden in spinal muscular atrophy patients and their families: a systematic review

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2022
Background Spinal muscular atrophy (SMA) is an autosomal-recessive disorder that manifests in paralysis and skeletal muscle weaknesses. This neuromuscular problem is caused by degeneration of the spinal cord anterior horn cells. Main body of the abstract
Dian Marta Sari, Laurentia Cindy Gani Wijaya, Wintoro Duraman Roives Sitorus, Mia Milanti Dewi   +3 more
doaj   +1 more source

Expanding the phenotype of DYNC1H1-associated diseases with a rare variant resulting in spinal muscular atrophy with lower extremity predominance (SMA-LED) and upper motor neuron signs [PDF]

, 2023
Jessica Lee, Philip Millington, Kavinda Dayasiri, Sithara Ramdas, Sandeep Jayawant, Geetha Anand   +5 more
openalex   +1 more source

Liver Steatosis in Induced Hepatocytes From Carriers of Spinal Muscular Atrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Although classically characterized as a motor neuron disease, spinal muscular atrophy (SMA) is increasingly recognized as a multisystem disorder. We previously showed hepatocyte‐intrinsic steatosis in SMA, raising the question of whether SMA carriers, who are typically asymptomatic, may also exhibit subclinical hepatic ...
Lingyu Sun, Damien Meng Kiat Leow, Loo Chien Wang, Michelle Yating Eio, Hiromi W. L. Koh, Zi Jian Khong, Gunaseelan Narayanan, Aloysius Kai Soon Teo, Richard Giadone, Radoslaw M. Sobota, Shi Yan Ng, Adrian Kee Keong Teo, Wei Yi Ong, Lee L. Rubin, Basil T. Darras, Crystal J. J. Yeo   +15 more
wiley   +1 more source

Neuroprotective effect of non-viral gene therapy treatment based on tetanus toxin C-fragment in a severe mouse model of Spinal Muscular Atrophy.

Frontiers in Molecular Neuroscience, 2016
Spinal muscular atrophy (SMA) is a hereditary childhood disease that causes paralysis and progressive degeneration of skeletal muscles and spinal motor neurons.
Sara Olivan Garcia, Sara Olivan Garcia, Ana Cristina Calvo, Amaya Rando, Mireia Herrando-Grabulosa, Raquel Manzano, Pilar Zaragoza, Eduardo Fidel Tizzano, Jose Aguilera, Rosario Osta   +9 more
doaj   +1 more source

Defective axonal transport in motor neuron disease [PDF]

, 2007
Several recent studies have highlighted the role of axonal transport in the pathogenesis of motor neuron diseases. Mutations in genes that control microtubule regulation and dynamics have been shown to cause motor neuron degeneration in mice and in a ...
Baas, Blair, Boillee, Bommel, Borchelt, Bowling, Brown, Bruijn, Burger, Cao, Cleveland, Cleveland, Duchen, Escurat, Evans, Fichera, Fliegner, Gaudette, Goldstein, Hadano, Hafezparast, Hazan, Hirokawa, Hirokawa, Hirokawa, Jablonka, Joshi, Kanai, Kaplan, Kieran, King, Kong, LaMonte, Levy, Ligon, Liu, Lo Giudice, Lu, Martin, Miki, Miki, Mitsumoto, Mitsumoto, Muglia, Munch, Nicholson, Nishimura, Okabe, Otomo, Parkinson, Parysek, Pasinelli, Patel, Proukakis, Puls, Puls, Quenneville, Rao, Reid, Reid, Reid, Rosen, Ross, Rowland, Sanderson, Schmitt-John, Shaw, Shibata, Siegel, Song, Teuchert, Troy, Vallee, Weber, Williamson, Wood, Xia, Zhao   +77 more
core   +1 more source

Electrophysiological Changes in Pediatric Spinal Muscular Atrophy: Results From an Observational Study

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Previous studies of children with spinal muscular atrophy (SMA) have focused on the ulnar and median nerves, while lower‐limb and proximal motor nerves remain insufficiently characterized. This study aimed to evaluate compound muscle action potential (CMAP) amplitudes in upper‐ and lower‐limb motor nerves in children with SMA
Ruidi Sun, Jing Wang, Jie Han, Jun Jiang, Jiajun Wu, Xue Chen, Xiaolong Deng, Chunquan Cai, Dan Sun   +8 more
wiley   +1 more source

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis [PDF]

, 2017
This document is the Accepted Manuscript version of the following article: Riessland et al., 'Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis', The American Journal of ...
Aaradhita Upadhyay, Ackermann, Akten, Alexander Hoischen, Anna Kaczmarek, Anne C. Hart, Arkblad, Armstrong, Benjamini, Benkhelifa-Ziyyat, Bogdanik, Briese, Brunhilde Wirth, Burgoyne, Burgoyne, C. Frank Bennett, Calixto, Cartegni, Cashman, Cathleen Bradler, Christian Gilissen, Cobben, Di Sole, Dimitriadi, Dimitriadi, Drapeau, Dubowitz, Dunning, El-Khodor, Fatt, Feldkötter, Flanagan-Steet, Frank Rigo, Gomez, Greene, Gudbjartsson, Gudrun Nürnberg, Hahnen, Hamilton, Haucke, Heesen, Heiko Löhr, Hidaka, Hosseinibarkooie, Hsieh-Li, Hua, Huber, Iino, Irmgard Hölker, Ivings, Jablonka, Kaczmarek, Kariya, Kashima, Kathryn J. Swoboda, Kong, Kübler, Ladant, Laura Torres-Benito, Lefebvre, Li, Liu, Lorson, Lotti, Lunn, Lutz Garbes, Macia, Maria Dimitriadi, Markus Riessland, Martinez-Carrera, Matthias Hammerschmidt, McWhorter, Mentis, Michael Walter, Min Jeong Kye, Miriam Peters, Monani, Mourelatos, Mukhopadhyay, Murray, Nasim Biglari, Neveling, Oates, Oprea, Parsons, Peeters, Pellizzoni, Peter Kloppenburg, Peter Nürnberg, Prior, Ramser, Riessland, Rossoll, Ruiz, Rüschendorf, Sandra Kröber, Schreij, See, Seyyedmohsen Hosseinibarkooie, Shababi, Shababi, Somers, Stevens, Sudhof, Sugarman, Sun, Suszyńska-Zajczyk, Svenja Schneider, Südhof, Thiele, Vanessa Grysko, Venkataraman, Viviano, von Kleist, Wang, Westerfield, Wettenhall, Wirth, Wirth, Wirth, Wishart, Yamatani, Zerres   +122 more
core   +3 more sources

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

A perturbed MicroRNA expression pattern characterizes embryonic neural stem cells derived from a severe mouse model of spinal muscular atrophy (SMA) [PDF]

, 2015
Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and the leading genetic cause of death in infants. Despite the disease-causing gene, survival motor neuron (SMN1), encodes a ubiquitous protein, SMN1 deficiency preferentially affects ...
Ciafrè, S, Farace, M, Luchetti, A, Malgieri, A, Masotti, A, Murdocca, M, Novelli, G, Sanchez, M, Sangiuolo, F   +8 more
core   +2 more sources

Spinal Muscular Atrophy Carrier Screening: Assessment of Provider Knowledge and Clinical Practice

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The American College of Obstetricians and Gynecologists (ACOG) recommends offering spinal muscular atrophy (SMA) carrier screening (CS) preconception or prenatally. This study aimed to determine provider knowledge of SMA and SMA CS practice patterns and to describe the relationship between knowledge and comfort while discussing ...
Melissa Riegel, Whitney Bender, Elizabeth Critchlow, Lorraine Dugoff   +3 more
wiley   +1 more source