Results 21 to 30 of about 604,348 (394)

Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy

Neural Regeneration Research, 2021
Infantile-onset spinal muscular atrophy is the quintessential example of a disorder characterized by a predominantly neurodegenerative phenotype that nevertheless stems from perturbations in a housekeeping protein.
Kishore Gollapalli, Jeong-Ki Kim, Umrao R Monani   +2 more
doaj   +1 more source

Oral risdiplam for specific therapy in adult patients with 5q spinal muscular atrophy in the Moscow region [PDF]

Анналы клинической и экспериментальной неврологии, 2023
5q spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease characterized by gradual loss of motor neurons with progressive muscle weakness and atrophy.
Ekaterina S. Novikova
doaj   +1 more source

Spinal and bulbar muscular atrophy as a multisystem disease with motor neuron and muscle involvement: literature review and a case report

Нервно-мышечные болезни, 2020
The spinal and bulbar muscular atrophy is a slowly progressive X-linked polysystemic disease associated with polyglutamine expansion in the androgen receptor gene. The mutant protein exhibits toxic properties towards neurons and myocytes.
E. O. Ivanova, E. Yu. Fedotov, S. N. Illarioshkin   +2 more
doaj   +1 more source

Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy

Annals of Clinical and Translational Neurology, 2022
To provide a greater understanding of the tolerability, safety and clinical outcomes of onasemnogene abeparvovec in real‐world practice, in a broad population of infants with spinal muscular atrophy (SMA).
Arlene M. D'Silva, Sandra Holland, D. Kariyawasam, K. Herbert, P. Barclay, A. Cairns, S. MacLennan, M. Ryan, H. Sampaio, Nicholas Smith, I. Woodcock, Eppie M You, I. Alexander, M. Farrar   +13 more
semanticscholar   +1 more source

Changes in pNFH Levels in Cerebrospinal Fluid and Motor Evolution after the Loading Dose with Nusinersen in Different Types of Spinal Muscular Atrophy

Medicina, 2023
Aim and Objectives: The objective of our retrospective study was to investigate the changes in pNFH levels in cerebrospinal fluid, which is a reliable marker of neuronal damage, after the loading dose of nusinersen in different types of spinal muscular ...
Mihaela Badina, Gabriel Cristian Bejan, Corina Sporea, Liliana Padure, Andrada Mirea, Madalina-Cristina Leanca, Mihaela Axente, Florin Petru Grigoras, Mihaela Bejan, Elena-Silvia Shelby, Elena Neagu, Daniela Adriana Ion   +11 more
doaj   +1 more source

Therapy development for spinal muscular atrophy: perspectives for muscular dystrophies and neurodegenerative disorders

Neurological Research and Practice, 2022
Background Major efforts have been made in the last decade to develop and improve therapies for proximal spinal muscular atrophy (SMA). The introduction of Nusinersen/Spinraza™ as an antisense oligonucleotide therapy, Onasemnogene abeparvovec/Zolgensma ...
S. Jablonka, Luisa Hennlein, M. Sendtner
semanticscholar   +1 more source

Spinal Muscular Atrophy [PDF]

Neurologic Clinics, 2015
Spinal muscular atrophy is an autosomal-recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations in the survival motor neuron 1 gene, SMN1. The severity of SMA is variable. The SMN2 gene produces a fraction of the SMN messenger RNA (mRNA) transcript produced by the SMN1 gene.
Stephen J. Kolb, John T. Kissel
openaire   +3 more sources

BONE HEALTH AND GROWTH IN SPINAL MUSCULAR ATROPHY TYPE 2 AND 3

İstanbul Tıp Fakültesi Dergisi, 2022
Objective: Spinal muscular atrophy is a lower motor neuron disease, but other parts of the body could be affected. This study compared bone mineral density with bone metabolism and physical growth rates in patients diagnosed with spinal muscular atrophy ...
Osman Kipoğlu, Esin Karakılıç Özturan, Orhan Coşkun, Ayşe Pınar Öztürk, Edibe Pembegül Yıldız, Firdevs Baş, Nur Aydınlı, Meliha Mine Çalışkan   +7 more
doaj   +1 more source

Mitochondrial Dysfunction in Spinal Muscular Atrophy

International Journal of Molecular Sciences, 2022
Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder caused by recessive mutations in the SMN1 gene, globally affecting ~8–14 newborns per 100,000.
Eleonora Zilio, V. Piano, B. Wirth
semanticscholar   +1 more source

Current evidence for treatment with nusinersen for spinal muscular atrophy : a systematic review [PDF]

, 2019
Recent discovery of nusinersen, an antisense oligonucleotide drug, has provided encouragement for improving treatment of spinal muscular atrophy. No therapeutic options currently exist for this autosomal recessive motor neuron disorder.
Meylemans, Antoon, De Bleecker, Jan
core   +1 more source