Results 41 to 50 of about 77,106 (331)

Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme

Developmental Medicine & Child Neurology, 2021
This study dynamically designed, evaluated, and implemented the components of an Australian newborn bloodspot screening (NBS) pilot programme for spinal muscular atrophy (SMA).
Arlene M. D'Silva, D. Kariyawasam, S. Best, V. Wiley, M. Farrar   +4 more
semanticscholar   +1 more source

Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3

Journal of Neurology Neurosurgery & Psychiatry, 2020
Objective To retrospectively investigate safety and efficacy of nusinersen in a large cohort of adult Italian patients with spinal muscular atrophy (SMA).
L. Maggi, L. Bello, S. Bonanno, A. Govoni, C. Caponnetto, L. Passamano, M. Grandis, F. Trojsi, F. Cerri, Manfredi Ferraro, V. Bozzoni, L. Caumo, R. Piras, R. Tanel, E. Saccani, M. Meneri, V. Vacchiano, G. Ricci, G. Soraru', E. D’Errico, I. Tramacere, S. Bortolani, G. Pavesi, R. Zanin, M. Silvestrini, L. Politano, A. Schenone, S. Previtali, A. Berardinelli, M. Turri, L. Verriello, M. Coccia, R. Mantegazza, R. Liguori, M. Filosto, G. Marrosu, G. Siciliano, I. Simone, T. Mongini, G. Comi, E. Pegoraro   +40 more
semanticscholar   +1 more source

Carrier screening for spinal muscular atrophy in 22913 Chinese reproductive age women

Molecular Genetics & Genomic Medicine
To determine the carrier frequency of, and evaluate a carrier screening program for, spinal muscular atrophy (SMA) in reproductive age women in Shenzhen area.
Lijun Zhang, Jun-luan Mo, Lu Zhou, Xiaoxin Xu, Zhi-yong Xu, Lei Zhang, Weiqing Wu   +6 more
semanticscholar   +1 more source

New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges

Journal of Clinical Medicine, 2020
Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases with progressive weakness of skeletal and respiratory muscles, leading to significant disability.
S. Messina, M. Sframeli
semanticscholar   +1 more source

Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review

Developmental Medicine & Child Neurology, 2021
To summarize the current knowledge on brain involvement in spinal muscular atrophy (SMA) type 1, focusing on brain pathology, cognition, and speech/language development.
R. Masson, C. Brusa, M. Scoto, G. Baranello   +3 more
semanticscholar   +1 more source

Report of a Patient with Multiple Mutations Leading to Charcot-Marie-Tooth Disease and Distal Spinal Muscular Atrophy: A Case Report

Iranian Journal of Public Health, 2020
The Charcot-Marie-Tooth disease is a group of progressive disorders that affects the peripheral nerves and results in loss of sensation and atrophy of muscles in lower limbs.
Atefeh MEHRABI, Dariush D. FARHUD, Karim NAYERNIA, Hossein SADIGHI, Marjan ZARIF-YEGANEH   +4 more
doaj   +1 more source

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Genetics in Medicine, 2020
Spinal muscular atrophy (SMA), caused by loss of the SMN1 gene, is a leading cause of early childhood death. Due to the near identical sequences of SMN1 and SMN2, analysis of this region is challenging.
Xiao Chen, Alba Sanchis-Juan, Courtney E. French, Andrew J. Connell, I. Delon, Z. Kingsbury, Aditi Chawla, A. Halpern, R. Taft, Nihr BioResource, D. Bentley, Matthew E. R. Butchbach, F. Raymond, M. Eberle   +13 more
semanticscholar   +1 more source

The social-economic burden of spinal muscular atrophy in Russia

Фармакоэкономика, 2021
Introduction. Spinal muscular atrophies (SMA) are clinically and genetically heterogeneous congenital orphan diseases that lead to progressive spinal motoneurons degeneration and loss of their function. There are 4 types of SMA with type I being the most
A. S. Kolbin, D. V. Vlodavets, A. A. Kurylev, Yu. Ye. Balykina, M. A. Proskurin, S. A. Mishinova, O. Yu. Germanenko, N. Yu. Kolbina   +7 more
doaj   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Gene Therapy for Spinal Muscular Atrophy: Safety and Early Outcomes

Pediatrics, 2020
In this article, we discuss overall safety and early outcomes in a large cohort of patients with SMA treated with onasemnogene abeparvovec-xioi within Ohio.
M. Waldrop, Cassandra Karingada, Michael A Storey, B. Powers, M. Iammarino, N. Miller, L. Alfano, G. Noritz, Ian T. Rossman, M. Ginsberg, Kathryn A. Mosher, E. Broomall, Jessica Goldstein, N. Bass, L. Lowes, C. Tsao, J. Mendell, A. Connolly   +17 more
semanticscholar   +1 more source