Results 111 to 120 of about 72,020 (228)

Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening

Developmental Medicine & Child Neurology, 2022
T. Dangouloff, M. Hiligsmann, N. Deconinck, A. D’Amico, A. Seferian, F. Boemer, L. Servais   +6 more
semanticscholar   +1 more source

Amyotrophic Lateral Sclerosis [PDF]

, 2019
The word amyotrophic is derived from Greek, and means “without nourishment to muscles”, lateral means to the sides and sclerosis means hardened (“What is ALS?,” n.d.).
Georgetson, Anastasia M.
core   +1 more source

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

A mouse coccygeal intervertebral disc degeneration model with tail‐looping constructed using a suturing method

Animal Models and Experimental Medicine, EarlyView.
A novel, simple coccygeal intervertebral disc degeneration model, using a suturing method for tail‐looping, without the need for external fixation and complex surgery. The model has high reproducibility and stability and overcomes the disadvantages of the existing animal models of disc degeneration.
Wei Xie, Zemao Huang, Ziyang Huang, Deqing Luo, Zhangxin Chen, Li Xie, Lingqi Zhu, Hui Liu, Kejian Lian, Paolo Alberton, Denitsa Docheva, Dasheng Lin   +11 more
wiley   +1 more source

Establishment of a humanized SCA2 mouse model carrying a CAA disruption preventing CAG repeat expansion in pathogenic genes

Animal Models and Experimental Medicine, EarlyView.
In this study, we established a mouse model in which CAG repeats do not undergo microsatellite instability (MSI) across generations. A humanized ATXN2 cDNA with four CAA interruptions within 73 CAG expansions was inserted into the Rosa26 locus of C57BL/6J mice. At the same time, a 23 CAG control mouse model was also generated.
Yao Zhang, Yufei Li, Lin Zhang, Zhaoqing Li, Keqin Lin, Kai Huang, Zhaoqing Yang, Shaohui Ma, Hao Sun, Xiaochao Zhang   +9 more
wiley   +1 more source

Research advances in dysphagia animal models

Animal Models and Experimental Medicine, EarlyView.
This review systematically summarizes the establishment, evaluation, and detection of dysphagia animal models in stroke, Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS) in three kinds of experimental animals (including rodents, nonhuman primates, and other mammals), providing a basis for the selection of appropriate animal models of ...
Junhui Bai, Keling Cheng, Nannan Zhang, Yunfang Chen, Jun Ni, Zhiyong Wang   +5 more
wiley   +1 more source

Randomized, Double‐Blind, Placebo‐Controlled, Multiple‐Dose Studies to Assess the Safety and Efficacy of Elezanumab when Added to Standard of Care in Relapsing and Progressive Forms of Multiple Sclerosis

Annals of Neurology, EarlyView.
Objective Elezanumab is a monoclonal antibody that binds repulsive guidance molecule a (RGMa), an inhibitor of central nervous system regeneration after inflammation or injury. The aim was to assess the safety and efficacy of elezanumab in relapsing and progressive forms of multiple sclerosis (MS).
Bruce A.C. Cree, Mark S. Freedman, Michael Gold, Kimberly Pfleeger, Brittany Schwefel, Annette Wundes, Adam Ziemann   +6 more
wiley   +1 more source

Onasemnogene Abeparvovec: A Review in Spinal Muscular Atrophy

CNS Drugs, 2022
Hannah A. Blair
semanticscholar   +1 more source

Neuroleukemiosis Masquerading as Drug Toxicity in an Adolescent With Refractory AML

American Journal of Hematology, EarlyView.
Nia Choi, Deborah Schady, Tim Lotze, Jill Ann Jarrell, Alexandra Rodriguez‐Hernandez, Sandra Aziz, Karen K. Moeller, Joanna S. Yi, Suzanne Woodbury, Andrea N. Marcogliese, Zoann E. Dreyer, Eric S. Schafer   +11 more
wiley   +1 more source

Cortical Excitability as a Prognostic and Phenotypic Stratification Biomarker in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Despite its clinical heterogeneity, amyotrophic lateral sclerosis is unified by early and prominent alterations in cortical excitability, increasingly recognized as contributors to disease progression. This study assessed whether the ratio between motor evoked potential (MEP) amplitude, reflecting upper motor neuron integrity, and compound ...
Federico Ranieri, Gianmaria Senerchia, Luigi Bonan, Stefania Casali, Corrado Cabona, Mariagiovanna Cantone, Fabiola De Marchi, Luca Diamanti, Alberto Doretti, Nicola Fini, Massimiliano Filosto, Andrea Fortuna, Aniello Iovino, Valentina Virginia Iuzzolino, Giuseppe Lanza, Christian Lunetta, Luca Maderna, Jessica Mandrioli, Letizia Mazzini, Gabriella Musumeci, Andi Nuredini, Gianni Sorarù, Antonella Toriello, Nicola Ticozzi, Massimiliano Todisco, Veria Vacchiano, Lucia Zinno, Vincenzo Silani, Simone Rossi, Vincenzo Di Lazzaro, Raffaele Dubbioso, on behalf of the MND Study Group of the Italian Neurological Society (SIN) and the Neurostimulation‐Neuromodulation Study Group of the Italian Society of Clinical Neurophysiology (SINC), Francesca Calvi, Maria Caputo, Stefano Gazzina, Laura Filippi, Rachele Piras, Marilisa Boscarino, Rita Bella, Manuela Pennisi, Fabio Pilato, Rosa Iodice   +41 more
wiley   +1 more source