Results 121 to 130 of about 20,899 (290)

Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2‐ and HINT1‐Related Disease

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims Differentiating hereditary axonal polyneuropathies caused by distinct gene variants remains a clinical challenge. This comparative case study of DNAJB2‐ and HINT1‐related neuropathies aimed to broaden the phenotypic spectrum associated with these genes and to explore non‐motor symptoms and quality of life (QoL) in affected ...
Bogdan Bjelica, Corinna Hendrich, Sandra von Hardenberg, Milica Vukojevic, Sonja Körner, Thomas Gschwendtberger, Aiden Haghikia, Stojan Peric, Susanne Petri   +8 more
wiley   +1 more source

Atrofia muscular espinhal tipo II (intermediária) e III (Kugelberg-Welander): evolução de 50 pacientes com fisioterapia e hidroterapia em piscina [PDF]

, 1996
We added hydrotherapy to 50 patients with spinal muscular atrophy (SMA) who were being treated with individual conventional physiotherapy. Hydrotherapy was performed at an approximate temperature of 30 degrees Celsius, twice a week, for thirty minutes in
Cunha, Márcia C. B., Gabbai, Alberto Alain, Labronici, Rita Helena D. D., Oliveira, Acary Souza Bulle   +3 more
core   +3 more sources

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

Population Physiologically‐Based Pharmacokinetic Modeling to Determine Ontogeny: A Quantitative Clinical Pharmacology Example in Pediatric Rare Disease

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 2, February 2026.
ABSTRACT Pediatric physiologically‐based pharmacokinetic (PBPK) modelling plays an increasing role in selecting doses in children and addressing clinical pharmacology questions. Ethical concerns often limit clinical pharmacology studies that have no direct therapeutic benefit in children, highlighting the value of PBPK model predictions.
Yumi Cleary, Bhagwat Prasad, Kayode Ogungbenro, Michael Gertz, Aleksandra Galetin   +4 more
wiley   +1 more source

Elevated Urinary Titin in Adult Spinal Muscular Atrophy: A Multicenter, Cross-Sectional Observational Study

Neurology International
Background: Spinal muscular atrophy (SMA) is a treatable motor neuron disease. Biomarkers for skeletal muscle atrophy are extremely important for measuring the effects of treatment and monitoring the natural course of the disease.
Andrea Sipos, Emese Rebeka Ripszám, Judit Mária Molnár, Zoltán Grosz, Judit Boczán, Melinda Borbála Altorjay, Livia Dézsi, Anett Csáti, Kristóf Babarczy, Norbert Kovács, Nándor Hajdú, Endre Pál   +11 more
doaj   +1 more source

Treatment Preference Among Patients With Spinal Muscular Atrophy (SMA): A Discrete Choice Experiment [PDF]

, 2020
Alisha Monnette, Er Chen, Dongzhe Hong, Alessandra N. Bazzano, Stacy Dixon, W. David Arnold, Lizheng Shi   +6 more
openalex   +1 more source

Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data [PDF]

, 2022
Judit Erdös, Claudia Wild
openalex   +1 more source

Therapeutic activity of modified U1 core spliceosomal particles

Nature Communications, 2016
Modification of the spliceosome is being tested as a potential therapy for exon-skipping diseases, such as spinal muscular atrophy (SMA). Here the authors show that 70K and stem loop IV structural elements of a modified U1 particle are essential for ...
Malgorzata Ewa Rogalska, Mojca Tajnik, Danilo Licastro, Erica Bussani, Luca Camparini, Chiara Mattioli, Franco Pagani   +6 more
doaj   +1 more source

Physical therapy services received by individuals with spinal muscular atrophy (SMA)

Journal of Pediatric Rehabilitation Medicine, 2016
PURPOSE: The consensus statement for standard of care in SMA recommends multidisciplinary medical care including physical therapy (PT) services. To date there are no reports regarding the implementation of these recommendations and the type of care or services received by individuals with SMA.
Sally, Dunaway, Jacqueline, Montes, Michael P, McDermott, William, Martens, Annie, Neisen, Allan M, Glanzman, Amy, Pasternak, Susan, Riley, Douglas, Sproule, Claudia, Chiriboga, Richard, Finkel, Gihan, Tennekoon, Basil, Darras, Darryl, De Vivo, Shree, Pandya   +14 more
openaire   +2 more sources

Motor Neuron Gene Therapy: Lessons from Spinal Muscular Atrophy for Amyotrophic Lateral Sclerosis [PDF]

, 2017
Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are severe nervous system diseases characterized by the degeneration of lower motor neurons.
Sleigh, JN, Tosolini, AP
core   +2 more sources