Spinal muscular atrophy: mutations, testing, and clinical relevance
MC Keinath, DE Prior, TW Prior - The Application of Clinical …, 2021 - Taylor & Francis
Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder that causes
degeneration of the alpha motor neurons from anterior horn cells in the spinal cord, which …
degeneration of the alpha motor neurons from anterior horn cells in the spinal cord, which …
Arthrogryposis: a review and update
M Bamshad, AE Van Heest, D Pleasure - JBJS, 2009 - journals.lww.com
The term arthrogryposis is often used as shorthand to describe multiple congenital
contractures that affect two or more different areas of the body. Arthrogryposis is not a …
contractures that affect two or more different areas of the body. Arthrogryposis is not a …
Optimization of base editors for the functional correction of SMN2 as a treatment for spinal muscular atrophy
CRR Alves, LL Ha, R Yaworski, ER Sutton… - Nature biomedical …, 2024 - nature.com
Spinal muscular atrophy (SMA) is caused by mutations in SMN1. SMN2 is a paralogous
gene with a C• G-to-T• A transition in exon 7, which causes this exon to be skipped in most …
gene with a C• G-to-T• A transition in exon 7, which causes this exon to be skipped in most …
Caenorhabditis elegans: A transgenic model for studying age-associated neurodegenerative diseases
Neurodegenerative diseases (NDs) are a heterogeneous group of aging-associated
ailments characterized by interrupting cellular proteostasic machinery and the misfolding of …
ailments characterized by interrupting cellular proteostasic machinery and the misfolding of …
Newborn and carrier screening for spinal muscular atrophy
TW Prior, PJ Snyder, BD Rink, DK Pearl… - American journal of …, 2010 - Wiley Online Library
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder
caused by mutations in the survival motor neuron (SMN1) gene, affecting approximately 1 in …
caused by mutations in the survival motor neuron (SMN1) gene, affecting approximately 1 in …
Pilot study of population-based newborn screening for spinal muscular atrophy in New York state
JN Kraszewski, DM Kay, CF Stevens, C Koval… - Genetics in …, 2018 - nature.com
Purpose To determine feasibility and utility of newborn screening for spinal muscular
atrophy (SMA) in New York State. Methods We validated a multiplex TaqMan real-time …
atrophy (SMA) in New York State. Methods We validated a multiplex TaqMan real-time …
Modeling human diseases in Caenorhabditis elegans
M Markaki, N Tavernarakis - Biotechnology journal, 2010 - Wiley Online Library
Genes linked to human diseases often function in evolutionarily conserved pathways, which
can be readily dissected in simple model organisms. Because of its short lifespan and well …
can be readily dissected in simple model organisms. Because of its short lifespan and well …
Carrier screening for spinal muscular atrophy
TW Prior - Genetics in Medicine, 2008 - nature.com
Disclaimer: This guideline is designed primarily as an educational resource for health care
providers to help them provide quality medical genetic services. Adherence to this guideline …
providers to help them provide quality medical genetic services. Adherence to this guideline …
Current and emerging therapies for Duchenne muscular dystrophy and spinal muscular atrophy
M Iftikhar, J Frey, MJ Shohan, S Malek… - Pharmacology & …, 2021 - Elsevier
Many neuromuscular diseases are genetically inherited or caused by mutations in motor
function proteins. Two of the most prevalent neuromuscular diseases are Duchenne …
function proteins. Two of the most prevalent neuromuscular diseases are Duchenne …
Spinal muscular atrophy—recent therapeutic advances for an old challenge
I Faravelli, M Nizzardo, GP Comi, S Corti - Nature Reviews Neurology, 2015 - nature.com
In the past decade, improved understanding of spinal muscular atrophy (SMA)
aetiopathogenesis has brought us to a historical turning point: we are at the verge of …
aetiopathogenesis has brought us to a historical turning point: we are at the verge of …