Results 71 to 80 of about 1,670 (170)

Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort

Journal of Neuromuscular Diseases, 2020
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous survival of motor neuron 1 (SMN1) gene disruption. Despite a genetic etiology, little is known about subtype concordance among siblings.To investigate subtype concordance among siblings with SMA.Cure SMA maintains a database of newly diagnosed patients ...
Cynthia C. Jones, Lisa Belter, Wildon Farwell, Sandra P. Reyna, Suzanne F. Cook, Kenneth Hobby, John F. Staropoli, Jill Jarecki   +7 more
openaire   +3 more sources

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

CRISPR Technology in Disease Management: An Updated Review of Clinical Translation and Therapeutic Potential

Cell Proliferation, EarlyView.
CRISPR‐Cas systems offer transformative genome editing capabilities for precise manipulation of cellular genes. This enables two main therapeutic avenues: ex vivo modification of patient cells for re‐transplantation or direct in vivo gene targeting via advanced delivery methods.
Bahareh Farasati Far, Marziyeh Akbari, Mohammad Amin Habibi, Morteza Katavand, Sherko Nasseri   +4 more
wiley   +1 more source

Bulbar function in children with spinal muscular atrophy type 1 treated with nusinersen

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To describe bulbar function trajectories in patients with spinal muscular atrophy (SMA) type 1 treated with nusinersen in the UK and Italy. Method In two previously reported, retrospective, observational cohort studies, we observed the 2‐year change in the Children's Eating and Drinking Ability Scale (CEDAS) (the revised and optimized ...
Georgia Stimpson, Lavinia Fanelli, Eleanor Conway, Emily Johnson, Beatrice Berti, Mariacristina Scoto, Francesco Muntoni, Eugenio Mercuri, Giovanni Baranello, the p‐FOIS/CEDAS and OrSAT Working Group, Nikki Cornell, Giulia Stanca, Giorgia Coratti, Marika Pane   +13 more
wiley   +1 more source

The incidence of hydrocephalus among patients with and without spinal muscular atrophy (SMA): Results from a US electronic health records study [PDF]

, 2021
Emma Viscidi, Nasha Wang, Maneesh Juneja, Ishir Bhan, Claudia Prada, Dayle James, Stacie Lallier, Corinne Makepeace, Karen Laird, Susan Eaton, Anne Dilley, Susan A. Hall   +11 more
openalex   +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

Changes in the cortical GABAergic inhibitory system with ageing and ageing‐related neurodegenerative diseases

The Journal of Physiology, EarlyView.
Abstract figure legend With ageing and age‐related neurodegenerative diseases, the amount of GABA and GABAergic inhibition as well as the modulation (indicated by sine wave) of GABAergic inhibition is reduced, whereas excitation is increased. In many parts of the brain, this leads to a mismatch of facilitatory (green neurons) and inhibitory (red ...
Wolfgang Taube, Benedikt Lauber
wiley   +1 more source

Restoring Bcl-xL levels benefits a mouse model of spinal muscular atrophy

Neurobiology of Disease, 2008
Currently, no curative treatment is available for spinal muscular atrophy (SMA). Since the degeneration of spinal motor neurons in SMA is mediated by apoptosis, over-expression of an anti-apoptotic factor, Bcl-xL, may benefit SMA.
Li-Kai Tsai, Ming-Shiun Tsai, Chen-Hung Ting, Sue-Hong Wang, Hung Li   +4 more
doaj  

The ageing brain: Cortical overactivation – How does it evolve?

The Journal of Physiology, EarlyView.
Abstract figure legend Age‐related progression of brain activity over time. This review article proposes a developmental process in the ageing brain, from compensation to negative overcompensation to chronic maladaptive overcompensation, which leads to dedifferentiation and desegregation.
Wolfgang Taube, Benedikt Lauber
wiley   +1 more source