Results 111 to 120 of about 20,899 (290)

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

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

The Illness Narratives of Children and Young People With Spinal Muscular Atrophy: A Scoping Review

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aim(s) This review seeks to explore the illness narratives of children and young people focusing on their healthcare trajectories; the right to health; and the kind of stories told about them. Design This scoping review adopts a narrative approach to analyse how the illness experience of Spinal Muscular Atrophy is represented in the literature,
Marcela González‐Agüero, Constanza Quezada, Valentina Turén, Josefa Camelio, Martina De Filippi, Caroline Bradbury‐Jones, Julie Taylor   +6 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

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

Identification of pathways of degeneration and protection in motor neuron diseases [PDF]

, 2017
Motor neuron diseases preferentially affect specific neuronal populations with distinct clinical features even if disease-causing genes are expressed in many cell types. In spinal muscular atrophy (SMA), somatic motor neurons are selectively vulnerable
Nichterwitz, Susanne
core   +1 more source

Stem Cells From Dental Pulp, Periodontal Tissues, and Other Oral Sources: Biological Concepts and Regenerative Potential

Journal of Periodontal Research, EarlyView.
A graphical abstract recapping the different sources of dental, periodontal, and other oral‐derived mesenchymal stromal cells (MSCs) and their regenerative mechanisms and potentials. The review's article findings bridge fundamental biological science with translational advances, highlighting the significance of MSCs in craniofacial regenerative ...
Karim M. Fawzy El‐Sayed, Sara El Moshy, Israa Ahmed Radwan, Dina Rady, Aiah A. El‐Rashidy, Marwa M. S. Abbass, Christof E. Dörfer   +6 more
wiley   +1 more source

Population screening for spinal muscular atrophy : a mixed methods study of the views of affected families [PDF]

, 2016
Autosomal recessive conditions are a significant health burden with few treatments. Population carrier screening has been suggested as a means to tackle them.
Boardman, Felicity K., Griffiths, Frances, Young, Philip J.   +2 more
core   +2 more sources

Novel Biallelic PLEKHG5 Variant Associated With Intermediate Charcot‐Marie‐Tooth Disease: Case Report From South America

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims Biallelic pathogenic variants in PLEKHG5 are associated with two distinct recessive phenotypes, including distal hereditary motor neuropathy AR type 4 and intermediate Charcot‐Marie‐Tooth disease type C (CMT). No South American cases have been previously reported.
Rafael Oliveira Vidon, Pedro José Tomaselli, Caroline Bittar‐Braune, Izabela Jardim Pitta, Glenda Corrêa Borges de Lacerda, Márcia Jardim   +5 more
wiley   +1 more source

Antisense-based therapy for the treatment of spinal muscular atrophy [PDF]

, 2012
One of the greatest thrills a biomedical researcher may experience is seeing the product of many years of dedicated effort finally make its way to the patient.
Bennett, C. F., Hua, Y. M., Krainer, A. R., Rigo, F.   +3 more
core   +1 more source