Results 121 to 130 of about 37,922 (217)

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

Liver Steatosis in Induced Hepatocytes From Carriers of Spinal Muscular Atrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Although classically characterized as a motor neuron disease, spinal muscular atrophy (SMA) is increasingly recognized as a multisystem disorder. We previously showed hepatocyte‐intrinsic steatosis in SMA, raising the question of whether SMA carriers, who are typically asymptomatic, may also exhibit subclinical hepatic ...
Lingyu Sun, Damien Meng Kiat Leow, Loo Chien Wang, Michelle Yating Eio, Hiromi W. L. Koh, Zi Jian Khong, Gunaseelan Narayanan, Aloysius Kai Soon Teo, Richard Giadone, Radoslaw M. Sobota, Shi Yan Ng, Adrian Kee Keong Teo, Wei Yi Ong, Lee L. Rubin, Basil T. Darras, Crystal J. J. Yeo   +15 more
wiley   +1 more source

Pregnancy in women with spinal muscular atrophy (SMA): maternal and neonatal outcomes with multi-speciality management. [PDF]

J Neurol
Cohen D, Nana M, Hart N, Arrandale L, Kelleher C, Nelson-Piercy C.   +5 more
europepmc   +1 more source

Combined Use of EMG and Muscle Ultrasound for the Evaluation of Scapular Winging

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Scapular winging occurs as an abnormal protrusion of the scapula due to nerve injury, muscle weakness, bone, or joint pathology. The main muscular stabilizers of the scapula include the serratus anterior, trapezius, rhomboid major and minor, levator scapulae, and pectoralis minor.
Benjamin P. Rardin, James B. Meiling, Michael S. Cartwright, James B. Caress   +3 more
wiley   +1 more source

Demographic, clinical and genetic characteristics of patients with amyotrophic lateral sclerosis from two specialised centres in Austria. [PDF]

J Neurol
Keritam O, Kleinveld VE, Klotz S, Caliskan H, Mayerhofer M, Sener M, Jäger F, Weng R, Bormann D, Pugna I, Gebert J, Fedak I, Renner A, Antoniewicz L, Rath J, Zulehner G, Krenn M, Zimprich F, Löscher WN, Cetin H.   +19 more
europepmc   +1 more source

Electrophysiological Changes in Pediatric Spinal Muscular Atrophy: Results From an Observational Study

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Previous studies of children with spinal muscular atrophy (SMA) have focused on the ulnar and median nerves, while lower‐limb and proximal motor nerves remain insufficiently characterized. This study aimed to evaluate compound muscle action potential (CMAP) amplitudes in upper‐ and lower‐limb motor nerves in children with SMA
Ruidi Sun, Jing Wang, Jie Han, Jun Jiang, Jiajun Wu, Xue Chen, Xiaolong Deng, Chunquan Cai, Dan Sun   +8 more
wiley   +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

Summary of Research: Fertility Outcomes in Risdiplam-Treated Male Patients with Spinal Muscular Atrophy: A Multicenter Case Series. [PDF]

Neurol Ther
Coskery S, Erdler M, Frey MR, Lopez MA.
europepmc   +1 more source

A New Phenotype–Genotype Correlation for FIG4 and Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Iro Boura, Panayiotis Mitsias, Sofia Erimaki, Efrosini Papadaki, Cleanthe Spanaki   +4 more
wiley   +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