Results 241 to 250 of about 120,291 (395)

Analysis of a Modified Version of the Inventory of Non‐Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study

Movement Disorders, EarlyView.
Abstract Background Friedreich's ataxia is a rare, neurodegenerative, multisystem disorder. While ataxia is a hallmark, non‐ataxia signs, including muscle weakness, spasticity, and dysphagia are equally disabling. The Inventory of Non‐Ataxia Signs (INAS) is a symptom list transformable to a 16‐item count.
Stella Andrea Lischewski, Imis Dogan, Paola Giunti, Michael H. Parkinson, Caterina Mariotti, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Zofia Fleszar, Thomas Klockgether, Marcus Grobe‐Einsler, Ilaria Giordano, Myriam Rai, Massimo Pandolfo, Heike Jacobi, Ralf‐Dieter Hilgers, Jörg B. Schulz, Kathrin Reetz, on behalf of the EFACTS Study Group   +23 more
wiley   +1 more source

Antenatal Ultrasound Findings in Spinal Muscular Atrophy Type 0. [PDF]

Mol Genet Genomic Med
Stokes S, Snipes M, Moore LD, Schlabritz-Lutsevich N, Amy V, Maher J.   +5 more
europepmc   +1 more source

A Network Centered on the Visual‐Motor Cortex Is Critically Involved in Postural Abnormality in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Postural abnormality (PA) is a key motor symptom in Parkinson's disease (PD) that leads to disability and death. However, the pathophysiology underlying PA is still unknown. Objective The objective of this study was to explore the neural patterns behind PAs and measures toward functional restoration using repetitive transcranial ...
Zhuang Wu, Sha Zhu, Ronghua Hong, Zhuoyu Zhang, Yanzi Peng, Jingxing Zhang, Lizhen Pan, Qiang Guan, Yuhui Chen, Lingjing Jin   +9 more
wiley   +1 more source

In utero therapy for spinal muscular atrophy: closer to clinical translation. [PDF]

Brain
Tizzano EF, Lindner G, Chilcott E, Finkel RS, Yáñez-Muñoz RJ.   +4 more
europepmc   +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, EarlyView.
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

Treating Presymptomatic Spinal Muscular Atrophy Patients with Onasemnogene Abeparvovec in Italy: The Role of the National Health System and Drug Supply. Comment on Zaidman et al. Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States. <i>Int. J. Neonatal Screen.</i> 2024, <i>10</i>, 58. [PDF]

Int J Neonatal Screen
Masson R, Gaballo S, Caravita R, Parravicini S.   +3 more
europepmc   +1 more source

Detrusor Overactivity and Urodynamics

Neurourology and Urodynamics, EarlyView.
ABSTRACT While overactive bladder (OAB) is a clinical diagnosis, detrusor overactivity is identified through urodynamic testing. UDS is usually considered when primary treatment for OAB fails, because UDS is expensive, time consuming, invasive, and sometimes inaccurate, and it is not considered to influence treatment strategy substantially.
Laura N. Nguyen, Geneviève Nadeau
wiley   +1 more source

Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan. [PDF]

NPJ Genom Med
Lin LL, Chien PM, Hsiao TH, Ye HY, Liu SH, Ko TM, Huang CH, Chen PL, Chen WC, Chou YT, Wu CS, Chen HH, Chien YH, Hsu JS.   +13 more
europepmc   +1 more source

Physiological barriers to oral intake in survivors of critical illness: A scoping review

Nutrition in Clinical Practice, EarlyView.
Abstract Oral nutrition is the predominant mode of nutrition delivery on the post–Intensive Care Unit (ICU) ward; yet, it is associated with lower intake than via enteral or parenteral nutrition. There are limited data on barriers that influence oral intake in ICU survivors.
Breanna J. Teleki, Elizabeth Viner Smith, Amy Freeman‐Sanderson, Rosalie Yandell, Lee‐anne S. Chapple   +4 more
wiley   +1 more source

Coexisting Rheumatoid Arthritis and Spinal Muscular Atrophy: A Case Report. [PDF]

Cureus
Alhayali M, Al-Baldawi S.
europepmc   +1 more source