Results 61 to 70 of about 72,020 (228)

New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges

Journal of Clinical Medicine, 2020
Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases with progressive weakness of skeletal and respiratory muscles, leading to significant disability.
S. Messina, M. Sframeli
semanticscholar   +1 more source

Spinal and Bulbar Muscular Atrophy [PDF]

Neurologic Clinics, 2015
Spinal and bulbar muscular atrophy, or Kennedy disease, is a slowly progressive X-linked neuromuscular disease caused by a trinucleotide (CAG) repeat expansion in the androgen receptor gene. Affected males typically develop weakness in their mid-40s as well as evidence of androgen insensitivity with reduced fertility and gynecomastia.
Kenneth H. Fischbeck, Christopher Grunseich   +1 more
openaire   +3 more sources

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Metabolic Dysfunction in Spinal Muscular Atrophy

International Journal of Molecular Sciences, 2021
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder leading to paralysis, muscle atrophy, and death. Significant advances in antisense oligonucleotide treatment and gene therapy have made it possible for SMA patients to benefit from ...
M. Deguise, Lucia Chehadé, R. Kothary
semanticscholar   +1 more source

Spinal Muscular Atrophy and Ependymoma

Saudi Journal of Medicine & Medical Sciences, 2017
Spinal muscular atrophy (SMA) is an autosomal recessive disorder, characterized by a progressive degeneration of anterior horn cells of the spinal cord resulting in hypotonia, skeletal muscle atrophy and weakness. We report the case of a 33-year-old female with SMA type IV (SMA4) who presented with symptoms of spinal cord lesion that was initially ...
Hosam Al-Jehani, Faisal Al Abbas, Aishah Albakr, Ahmed Ammar   +3 more
openaire   +3 more sources

Translating a Preclinically Tested 15 Hz rTMS Protocol to Humans With Chronic Spinal Cord Injury: A Safety and Feasibility Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Repetitive transcranial magnetic stimulation (rTMS) is a non‐invasive brain stimulation strategy with a demonstrated potential to reinforce the residual pathways after a spinal cord injury (SCI). A preclinically tested high‐frequency (15 Hz) rTMS (15 Hz rTMS) protocol was shown to induce corticospinal tract axon regeneration growth ...
Nabila Brihmat, Mehmed B. Bayram, Morgan Paine, Janelle Carnahan, Jian Zhong, Xiaofei Guan, Guang H. Yue, Soha Saleh, Gail F. Forrest   +8 more
wiley   +1 more source

Efgartigimod Combined With Steroid Treatment for HAM/TSP: A Case Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT HTLV‐1‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a progressive neurological disorder with limited treatment options. We report a 54‐year‐old female with decade‐long, progressive HAM/TSP, previously refractory to rituximab, who experienced worsening spastic paraparesis and neurogenic bladder dysfunction.
Jiahui Zeng, Wotu Tian, Jingran Yang, Yanping Yang, Li Cao, Xinghua Luan   +5 more
wiley   +1 more source

Therapeutic Implants: Mechanobiologic Enhancement of Osteogenic, Angiogenic, and Myogenic Responses in Human Mesenchymal Stem Cells on 3D‐Printed Titanium Truss

Advanced Healthcare Materials, EarlyView.
This study investigates a synergistic effect between 3D‐printed surface features and mechanical micro‐strain in enhancing the osteogenic, angiogenic, and myogenic responses of human mesenchymal stem cells (hMSCs). Load‐induced mechanotransduction, facilitated by the implant's architectural design, significantly amplifies hMSC differentiation.
Se‐Hwan Lee, Ali Kiapour, Brendan D. Stoeckl, Ellen Y. Zhang, Matthew R. Begley, Jarod Oldham, Lewis Harrison, Jessee Hunt, Robert L. Mauck, Su Chin Heo   +9 more
wiley   +1 more source

YAC contigs of the Rab1 and wobbler (wr) spinal muscular atrophy gene region on proximal mouse chromosome 11 and of the homologous region on human chromosome 2p [PDF]

, 1996
powerful tool to advance the identi®cation of gene com-Despite rapid progress in the physical characteriza- plexes and of disease genes. In this respect, the analysis tion of murine and human genomes, little molecular in- of human chromosomes 16 and 19 ...
Baer, K, Jockusch, H, Korthaus, D, Lengeling, A, Ronsiek, M, Wedemeyer, N, Wuttke, M   +6 more
core   +2 more sources

From Mechanoelectric Conversion to Tissue Regeneration: Translational Progress in Piezoelectric Materials

Advanced Materials, EarlyView.
This review highlights recent progress in piezoelectric materials for regenerative medicine, emphasizing their ability to convert mechanical stimuli into bioelectric signals that promote tissue repair. Key discussions cover the intrinsic piezoelectric properties of biological tissues, co‐stimulation cellular mechanisms for tissue regeneration, and ...
Xinyu Wang, Sílvio Terra Stefanello, Victor Shahin, Yun Qian   +3 more
wiley   +1 more source