Results 91 to 100 of about 19,843 (235)

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings

Neuromuscular Disorders, 2011
Spinal muscular atrophy (SMA) is caused by loss or mutations of the survival motor neuron 1 gene (SMN1). Its highly homologous copy, SMN2, is present in all SMA cases and is a phenotypic modifier. There are cases where asymptomatic siblings of typical SMA patients possess a homozygous deletion of SMN1 just like their symptomatic brothers or sisters ...
Bernal, S, Also-Rallo, E, Martinez-Hernandez, R, Alias, L, Rodriguez-Alvarez, FJ, Millan, JM, Hernandez-Chico, C, Baiget, M, Tizzano, EF   +8 more
openaire   +4 more sources

Cognitive and neurodevelopmental disorders in spinal muscular atrophy type I at the time of disease‐modifying therapies

Developmental Medicine &Child Neurology, EarlyView.
Abstract After treatment with new disease‐modifying therapies, cognitive and neurodevelopmental aspects have been observed in individuals with spinal muscular atrophy (SMA). Emerging evidence suggests that children with SMA type 1 may experience cognitive, language, and behavioural delays, with reported rates of neurodevelopmental difficulties ranging ...
Giorgia Coratti, Bianca Buchignani, Eugenio Mercuri   +2 more
wiley   +1 more source

ZPR1-Dependent Neurodegeneration Is Mediated by the JNK Signaling Pathway

Journal of Experimental Neuroscience, 2019
The zinc finger protein ZPR1 deficiency causes neurodegeneration and results in a mild spinal muscular atrophy (SMA)-like disease in mice with reduced Zpr1 gene dosage. Mutation of the survival motor neuron 1 ( SMN1 ) gene causes SMA.
Xiaoting Jiang, Annapoorna Kannan, Laxman Gangwani   +2 more
doaj   +1 more source

تجربیات زیسته یک مادر دارای کودک مبتلا به سندرم وردینگ هافمن: مطالعه موردی کیفی The Lived Experiences of the Mother of a Child with Werdnig-Hoffman Syndrome: A Qualitative Case Study [PDF]

, 2016
مقدمه: سندوم وردینگ هافمن جزء بیماری‌های تحلیل برنده و پیش‌رونده عصبی- نخاعی محسوب می‌شود که به صورت اتوزومی نهفته به ارث می ...
Araghian-Mojarad, F., Jouybari, L., Sanagoo, A.   +2 more
core  

Notch Signaling Pathway Is Activated in Motoneurons of Spinal Muscular Atrophy [PDF]

, 2013
Spinal muscular atrophy (SMA) is a neurodegenerative disease produced by low levels of Survival Motor Neuron (SMN) protein that affects alpha motoneurons in the spinal cord.
Caraballo Miralles, Víctor, Cardona Rossinyol, Andrea, Garcera, Ana, Lladó, Jerònia, Olmos, Gabriel, Solar, Rosa María, Tabares Domínguez, Lucía, Torres Benito, Laura   +7 more
core   +4 more sources

Autism spectrum disorder in children with spinal muscular atrophy type 1: Case series

Developmental Medicine &Child Neurology, EarlyView.
Autism spectrum disorder (ASD) was identified in 37.5% of children with SMA (n = 13). While IQ did not differ significantly between groups, adaptive functioning was reduced in those with co‐occurring ASD. Results support routine early neurodevelopmental screening in children with spinal muscular atrophy.
Lorena V. Rezende, Adriana B. Ortega, Daniel A. Do Valle, Tiago S. Bara, Mara L. Cordeiro   +4 more
wiley   +1 more source

Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series

Frontiers in Genetics
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by mutations in SMN1, with disease severity influenced by the number of SMN2 copies.
Kakha Bregvadze, Luka Abashishvili, Nana Nino Tatishvili, Nana Nino Tatishvili, Teona Shatirishvili, Teona Shatirishvili, Ana Bedoshvili, Ana Bedoshvili, Gocha Chikvinidze, Arndt Rolfs, Arndt Rolfs, Volha Skrahina, Tinatin Tkemaladze, Tinatin Tkemaladze   +13 more
doaj   +1 more source

Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference? [PDF]

, 2018
The physical and social challenges associated with neuromuscular disorders may impact mental wellbeing in non-ambulant youth during the more vulnerable period of adolescence.
Downs, Jenny, Hince, Dana, Patman, Shane, Travlos, Vivienne, Wilson, Andrew   +4 more
core   +1 more source

Self-oligomerization regulates stability of survival motor neuron protein isoforms by sequestering an SCF^Slmb degron [PDF]

, 2017
Spinal muscular atrophy (SMA) is caused by homozygous mutations in human SMN1. Expression of a duplicate gene (SMN2) primarily results in skipping of exon 7 and production of an unstable protein isoform, SMNΔ7.
A. Gregory Matera, Ackermann B, Ahmad S, Allison D. Ebert, Amanda C. Raimer, Angus I. Lamond, Ashlyn M. Spring, Bischof J, Bowerman M, Bowerman M, Burghes Arthur HM, Burnett BG, Cauchi RJ, Chan YB, Chang HC, Chang HCH, Charroux B, Chen PC, Cho S, Choudhury R, Christian L. Lorson, Coovert DD, Crawford TO, Custer SK, David Baillat, Dimitriadi M, Dominguez E, Ebert AD, Ebert AD, Eric J. Wagner, Fan L, Fischer U, Foust KD, Frescas D, Fuchs SY, Garcia EL, Garcia EL, Gates J, Genabai NK, Glascock JJ, Gregory D. Van Duyne, Groen EJN, Gupta K, Guruharsha KG, Han KJ, Hosseinibarkooie S, Hsieh-Li HM, Hsu SH, Ikeda F, Jacqueline J. Glascock, Jain AK, Jiang J, Jin J, Kariya S, Kelsey M. Gray, Kevin A. Kaifer, Khush RS, Kim EK, Kim TY, Kirkin V, Kolb SJ, Komander D, Kong L, Korhonen L, Kroiss M, Kushol Gupta, Kwon DY, Le TT, Lee YC, Lefebvre S, Lefebvre S, Li DK, Li XM, Lim KL, Liu C, Liu F, Liu M, Lorson CL, Lorson CL, Lorson CL, Makhortova NR, Marblestone JG, Martin R, Matera AG, McWhorter ML, Meister G, Michael J. Emanuele, Monani UR, Monani UR, Mukhopadhyay D, Murase S, Ning K, Ogino S, Ojeda L, Oprea GE, Oskoui M, O’Hearn PJ, Paquette N, Passini MA, Patton EE, Patton EE, Pearn J, Pellizzoni L, Petroski MD, Pillai RS, Praveen K, Praveen K, Prior TW, Rajendra TK, Ramser J, Rindt H, Rogers SL, Rossoll W, Sanchez G, Sara ten Have, Sareen D, Schmutzler RK, Shafey D, Sharma A, Svendsen CN, Tan JMM, Thomas R. Bonacci, Tiziano FD, Trinkle-Mulcahy L, Valori CF, van Wijk SJL, Voigt T, Walker MP, Wee CD, Wishart TM, Ye Y, Ying Wen, Yukiko Yamashita, Zhang L, Zheng N, Zhou R   +135 more
core   +3 more sources

Ethics and equity in access to disease‐modifying therapies and newborn screening for spinal muscular atrophy: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Outcomes of children with cerebral palsy receiving long‐term respiratory support. Aim To review barriers to ethical and equitable access to disease‐modifying therapies (DMTs) and newborn screening (NBS) for spinal muscular atrophy (SMA). Method We searched PubMed, Scopus, Web of Science, EBSCOhost, the Cochrane Library, Google Scholar, and Primo for ...
Serini Murugasen, Mariana Kruger, Marc Blockman, Jo M. Wilmshurst   +3 more
wiley   +1 more source