Results 1 to 10 of about 1,742,640 (300)

Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening

Children, 2022
The aim of this study was to assess the psychosocial burden in parents of children with spinal muscular atrophy (SMA), detected by newborn screening (NBS), for which first pilot projects started in January 2018 in Germany. The survey, performed 1–2 years
Heike Kölbel, Laura Modler, Astrid Blaschek, Ulrike Schara-Schmidt, Katharina Vill, Oliver Schwartz, Wolfgang Müller-Felber   +6 more
doaj   +1 more source

Modeling of Charcot-Marie-Tooth disease in zebrafish

Frontiers in Molecular Neuroscience
Charcot–Marie–Tooth (CMT) disease is one of the most common inherited neuromuscular disorders, characterized by progressive peripheral nerve degeneration, muscle weakness, and sensory loss. To date, no effective therapy has been developed for CMT.
Małgorzata Korzeniowska née Wiweger, Katarzyna Chabros, Weronika Rzepnikowska, Andrzej Kochański, Dagmara Kabzińska   +4 more
doaj   +1 more source

French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice

Orphanet Journal of Rare Diseases
Background Calpainopathies, including limb-girdle muscular dystrophy recessive type 1 (LGMD R1) and the rare dominant type 4 (LGMD D4), are genetic neuromuscular disorders caused by pathogenic variants in the CAPN3 gene, which encodes calpain-3, a muscle-
Gianmarco Severa, Sarah Souvannanorath, Iman Tahiri, Christophe Alimi, Abderhmane Slioui, Luisa Villa, Emmanuelle Salort-Campana, France Leturcq, Nathalie Streichenberger, Martin Krahn, Guilhem Solé, Léonard Feasson, Aleksandra Nadaj-Pakleza, Celine Tard, Tanya Stojkovic, Sabrina Sacconi, Edoardo Malfatti   +16 more
doaj   +1 more source

Efficacy of spinal extension exercise program versus muscle energy technique in treatment of chronic mechanical low back pain

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2019
Background Mechanical low back pain (MLBP) is a major cause of illness and disability, especially in people of working age. People with chronic low back pain often experience anger, fear, anxiety, decrease in physical ability, and inadequacy of role ...
E. Fahmy, H. Shaker, W. Ragab, H. Helmy, M. Gaber   +4 more
doaj   +1 more source

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

BMC Medical Genetics, 2020
Background Intellectual disability (ID) is both a clinically diverse and genetically heterogeneous group of disorder, with an onset of cognitive impairment before the age of 18 years.
Muhammad Ilyas, Stephanie Efthymiou, Vincenzo Salpietro, Nuzhat Noureen, Faisal Zafar, Sobiah Rauf, Asif Mir, Henry Houlden   +7 more
doaj   +1 more source

Effect of cognitive multisensory rehabilitation on upper extremity function in stroke patients: A randomized controlled trial

Sport TK
Article accepted. The article will be published here soon. Pending final quality checks.
Lama Saad El-Din Mahmoud, Omnia Shokry Mohamed, Osama Yacoub, Mohammad Sadik Badawy   +3 more
doaj   +1 more source

Functional outcome of joint mobilization added to task-oriented training on hand function in chronic stroke patients

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2020
Background Approximately half of stroke patients show impaired upper limb and hand function. Task-oriented training focuses on functional tasks, while joint mobilization technique aims to restore the accessory movements of the joints.
Asmaa Sabbah, Sherine El Mously, Hanan Helmy Mohamed Elgendy, Mona Adel Abd Eltawab Farag, Abeer Abo Bakr Elwishy   +4 more
doaj   +1 more source

AUG-Dependent Translation of Antisense Repeat Transcripts Contributes to Dipeptide Repeat Protein Production in C9ORF72 Expansion Carriers

Cells
A hexanucleotide repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Sandra Almeida, Yuanzheng Gu, Mark W. Kankel   +2 more
doaj   +1 more source

Attribution of original contribution in large datasets in the era of multi‐omic studies

Annals of Clinical and Translational Neurology, 2022
Payam Mohassel, Eleonora Guadagnin, Carsten G. Bönnemann   +2 more
doaj   +1 more source

Identification of serum microRNAs as potential biomarkers in Pompe disease

Annals of Clinical and Translational Neurology, 2019
Objective To analyze the microRNA profile in serum of patients with Adult Onset Pompe disease (AOPD). Methods We analyzed the expression of 185 microRNAs in serum of 15 AOPD patients and five controls using microRNA PCR Panels.
Ana Carrasco‐Rozas, Esther Fernández‐Simón, Maria Cinta Lleixà, Izaskun Belmonte, Irene Pedrosa-Hernandez, Elena Montiel-Morillo, Claudia Nuñez‐Peralta, Jaume Llauger Rossello, Sonia Segovia, Noemí De Luna, Xavier Suarez‐Calvet, Isabel Illa, Pompe Spanish Study group, Jordi Díaz‐Manera, Eduard Gallardo   +14 more
doaj   +1 more source