Results 71 to 80 of about 2,046 (140)

Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy

International Journal of General Medicine, 2022
Leigh Ramos-Platt,1 Lauren Elman,2 Perry B Shieh3 1Department of Pediatrics, Keck School of Medicine, University of Southern California and Children’s Hospital of Los Angeles, Los Angeles, CA, USA; 2Department of Neurology, University of Pennsylvania ...
Ramos-Platt L, Elman L, Shieh PB
doaj  

Newer advances in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy

Journal of Current Research in Scientific Medicine, 2019
Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are two common and important Inherited neuromuscular disorders which have witnessed immense advances in their treatment owing to ongoing developments in gene therapy.
Mukesh Kumar, Venugopalan Y Vishnu
doaj   +1 more source

Nusinersen en el tratamiento de la atrofia muscular espinal: experiencia en Pediatría del Hospital Universitario Río Hortega [PDF]

, 2019
La atrofia muscular espinal (AME) es una enfermedad neurodegenerativa que conlleva una pérdida de fuerza progresiva e hipotonía. Se trata de una enfermedad genética debida a mutaciones en el gen SMN1, lo que ocasiona un déficit de la proteína de ...
Torío Salvador, Marina
core  

Quantitative Whole‐Body Muscle MRI in Adults With Spinal Muscular Atrophy–A Sensitive Tool for Long‐Time Evaluation of Disease Progression

European Journal of Neurology, Volume 33, Issue 3, March 2026.
Quantitative muscle MRI is emerging as an objective biomarker for monitoring therapy in neuromuscular disorders, yet long‐term trajectories in slowly progressive adult spinal muscular atrophy (SMA) remain unclear. In this study, quantitative MRI parameters in nusinersen‐treated adults were longitudinally evaluated and compared with established clinical
Alexander Mensch, Benjamin Troppa, Ilka Schneider, Caroline Deborah Stapf, Anna Katharina Koelsch, Thomas Kendzierski, David Strube, Sebastian Plutz, Max Obenauf, Karl‐Stefan Delank, Torsten Kraya, Markus Otto, Dietrich Stoevesandt, Steffen Naegel   +13 more
wiley   +1 more source

Treatment strategies for patients with spinal muscular atrophy [PDF]

peer ...
De Waele, Liesbeth, Servais, Laurent
core   +2 more sources

Spinal Muscular Atrophy Cases and Therapeutic Pathways in Cities in Western Libya [PDF]

Autosomal recessive mutations in the survival motor neuron1 (SMN1) gene cause spinal muscular atrophy (SMA), which ischaracterized by increasing muscle weakening and motor neuron loss. It is important to diagnose the disease and starttreatment procedures
Ali, Fatima, Beshna, Ebtesam, Dabooub, Areej, Ishrayhah, Mabrooukah, Nouralddeen, Sara, Salem, Ayat   +5 more
core   +2 more sources

Examination of the Peripheral Nervous System in Children With Spinal Muscular Atrophy: A High‐Resolution Ultrasonographic Study

Brain and Behavior, Volume 16, Issue 2, February 2026.
This study aimed to analyze the structure and cross‐sectional area (CSA) of the median nerve in children with spinal muscular atrophy (SMA) and evaluate the usefulness of high‐resolution ultrasound (HRUS) imaging for the monitoring of peripheral nerves in these children.
Janina Wurster, Erin West, Sandro Meier, Noé Phillip Bürke, Lynn Jansen, Philip Julian Broser   +5 more
wiley   +1 more source

A Psychometric Evaluation of Maximum Phonation Time and S/Z Ratio as Pragmatic Outcome Measures of Bulbar Function in Adults With Spinal Muscular Atrophy

Muscle &Nerve, Volume 73, Issue 2, Page 297-303, February 2026.
ABSTRACT Introduction/Aims A pragmatic evaluation of bulbar function among adults with spinal muscular atrophy (awSMA) is needed, requiring the validation of a low‐cost, feasible outcome measure (OM). Maximum phonation time (MPT) and S/Z ratio (S/Z) are potential low‐cost OMs for bulbar function. This study aimed to evaluate the psychometric properties
Jeremy Slayter, Lauren Casey, Dorothy Drost, Shane McCullum, Allison Christie, Colleen O'Connell   +5 more
wiley   +1 more source

Specificity, synergy, and mechanisms of splice-modifying drugs

Nature Communications
Drugs that target pre-mRNA splicing hold great therapeutic potential, but the quantitative understanding of how these drugs work is limited. Here we introduce mechanistically interpretable quantitative models for the sequence-specific and concentration ...
Yuma Ishigami, Mandy S. Wong, Carlos Martí-Gómez, Andalus Ayaz, Mahdi Kooshkbaghi, Sonya M. Hanson, David M. McCandlish, Adrian R. Krainer, Justin B. Kinney   +8 more
doaj   +1 more source

Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain [PDF]

BACKGROUND: Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by mutations in Survival motor neuron 1 (SMN1) gene, leading to reduction in survival motor neuron protein (SMN), key for motor neuron survival and function in the ...
Ambegaonkar, Gautam, Baranello, Giovanni, Childs, Anne-Marie, Chow, Gabriel, Cornell, Nikki, Hughes, Imelda, Illingworth, Marjorie, Majumdar, Anirban, Marini-Bettolo, Chiara, Munot, Pinki, paediatric UK risdiplam EAMS working group, ., Parasuraman, Deepak, Scoto, Mariacristina, Spinty, Stefan, Willis, Tracey, Wraige, Elizabeth   +15 more
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