Results 91 to 100 of about 121,613 (384)

A case of bulbospinal muscular atrophy with large fasciculation manifesting as spinal myoclonus

Clinical Neurophysiology Practice, 2017
Objective: This paper reports a patient with bulbospinal muscular atrophy (BSMA) who presented with spinal myoclonus, documented by video and surface electromyography.
Manabu Inoue, Yasuhiro Kojima, Masutaro Kanda, Koji Tsuzaki, Yoko Shibata, Toshiaki Hamano, Hiroshi Shibasaki   +6 more
doaj   +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

Gene Therapy for Spinal Muscular Atrophy: Safety and Early Outcomes

Pediatrics, 2020
In this article, we discuss overall safety and early outcomes in a large cohort of patients with SMA treated with onasemnogene abeparvovec-xioi within Ohio.
M. Waldrop, Cassandra Karingada, Michael A Storey, B. Powers, M. Iammarino, N. Miller, L. Alfano, G. Noritz, Ian T. Rossman, M. Ginsberg, Kathryn A. Mosher, E. Broomall, Jessica Goldstein, N. Bass, L. Lowes, C. Tsao, J. Mendell, A. Connolly   +17 more
semanticscholar   +1 more source

Cutaneous Phosphorylated Alpha‐Synuclein in Lewy Body Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the test performance of cutaneous phosphorylated alpha‐synuclein (P‐SYN) in dementia with Lewy bodies (DLB), individuals with reduced Montreal Cognitive Assessment (MoCA) and healthy controls. Methods This is the first subgroup analysis of the Synuclein‐One study, a prospective, blinded study evaluating P‐SYN detection ...
Christopher H. Gibbons, Todd Levine, Charles H. Adler, Bailey Bellaire, Ningshan Wang, Pinky Agarwal, Georgina M. Aldridge, Alexandru Barboi, Daniel Claassen, Virgilio G. H. Evidente, Douglas Galasko, Alejandra Gonzalez‐Duarte, Ramon Gil, Mark Gudesblatt, Stuart H. Isaacson, Horacio Kaufmann, Pravin Khemani, Rajeev Kumar, Guillaume Lamotte, Andy J. Liu, Nikolaus R. McFarland, Mitchell G. Miglis, Adam Reynolds, Gregory A. Sahagian, Marie‐Helene Saint‐Hilaire, Julie B. Schwartzbard, Wolfgang Singer, Michael J. Soileau, Steven Vernino, Patricio Millar Vernetti, Oleg Yerstein, Roy Freeman   +31 more
wiley   +1 more source

Spinal muscular atrophy: clinical features and treatment of spinal and limb deformities. Interstate Consensus Protocol

Хирургия позвоночника, 2020
Objective. To substantiate the protocol for the diagnosis and treatment of deformities of the spine and limbs in patients with spinal muscular atrophy basing on an assessment of the level of evidence of published data. Material and Methods.
Sergey O. Ryabykh, Dmitry M. Savin, Egor Yu. Filatov, Svetlana N. Medvedeva, Anastasia N. Tretjakova, Dmitry A. Popkov, Tatyana V. Ryabykh, Elena N. Shchurova, Marat S. Saifutdinov   +8 more
doaj   +1 more source

Bioprinting Organs—Science or Fiction?—A Review From Students to Students

Advanced Healthcare Materials, EarlyView.
Bioprinting artificial organs has the potential to revolutionize the medical field. This is a comprehensive review of the bioprinting workflow delving into the latest advancements in bioinks, materials and bioprinting techniques, exploring the critical stages of tissue maturation and functionality.
Nicoletta Murenu, Camilla Mussoni, Mateo S. Andrade Mier, Paula Buettner, Nathaly Chicaiza‐Cabezas, Yi‐Yu Robin Dai, Jessica Faber, Maren Fiedler, Zan Lamberger, Xuen Jen Ng, Vanessa Moessler, Anna Rederer, Jonas Roeder, Sabrina Stecher, Katinka Theis, Jeanette Weigelt, Silvia Budday, Gregor Lang, Natascha Schaefer   +18 more
wiley   +1 more source

Casting Light on Mechanical Properties of Lower and Upper Extremity Muscles in Children with Spinal Muscular Atrophy and Healthy Peers

Archives of Health Science and Research
Objective: This study aimed to compare the mechanical properties of upper and lower extremities between children with spinal muscular atrophy types 1 and 2 and healthy peers.
Seval KUTLUTÜRK-YIKILMAZ, Tülay ÇEVİK-SALDIRAN, Özgül ÖZTÜRK, Sedat ÖKTEM   +3 more
doaj   +1 more source

Pathogenesis of proximal autosomal recessive spinal muscular atrophy [PDF]

, 2008
Although it is known that deletions or mutations of the SMN1 gene on chromosome 5 cause decreased levels of the SMN protein in subjects with proximal autosomal recessive spinal muscular atrophy (SMA), the exact sequence of pathological events leading to ...
Šimić, Goran
core   +1 more source

Tunicate‐Inspired Carboxymethyl Cellulose Hydrogel Filler for Treating Age‐Associated Vocal Fold Atrophy

Advanced Healthcare Materials, EarlyView.
The pyrogallol‐conjugated carboxymethylcellulose (CMC‐PG) hydrogel is applicated as a filler for the treatment of presbylaryngis, a vocal fold atrophy. CMC‐PG provides a bulking effect to the vocal folds. CMC‐PG is readily injectable and tissue adhesive, enabling sustained release of growth factor over long period.
Jihoon Jeon, Sang‐Yoon Han, Ji Suk Choi, Soojeong Choi, Dongkyun Shin, Mikyung Shin, Seong Keun Kwon, Seung‐Woo Cho   +7 more
wiley   +1 more source

Sculpting the Future of Bone: The Evolution of Absorbable Materials in Orthopedics

Advanced Materials, EarlyView.
This review summarizes the current status of polymeric, ceramic, and metallic absorbable materials in orthopedic applications, and highlights several innovative strategies designed to enhance mechanical performance, control degradation, and promote bioactivity. We also discuss the progress and translational potential of absorbable materials in treating
Zhao Wang, Zehui Lv, Xuejie Cai, Yingjie Wang, Bo Peng, Haojing Xu, Hualuo Pang, Xingdong Yang, Jiawei Xu, Yixin Bian, Bin Feng, Peng Wen, Yufeng Zheng, Xisheng Weng   +13 more
wiley   +1 more source