Results 81 to 90 of about 45,526 (300)

PROGRESSIVE SPINAL MUSCULAR ATROPHY OF INFANTS (WERDNIG-HOFFMANN TYPE) [PDF]

, 1912
F. E. Batten, Gordon Holmes
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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

A Model for Spinal Muscular Atrophy Disease Registry for Iran [PDF]

Payesh
Objective(s): Spinal muscular atrophy is a rare genetic disease of neuromuscular and it is considered the main cause of death of newborns, which affects spinal motor neurons.
Hadiseh Azadi Cheshmekabodi, Farahnaz Sadoughi, Somayeh Nasiri   +2 more
doaj  

HEREDITARY FORM OF PROGRESSIVE MUSCULAR ATROPHY WITH SPINAL LESION IN YOUNG CHILDREN [PDF]

, 1897
F. E. Batten
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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

Proximal spinal muscular atrophy 5q

Нервно-мышечные болезни, 2020
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article Editorial
doaj  

Progressive Spinal Muscular Atrophy (Duchenne-Aran) following Electric Shock; Positive Wassermann Reaction [PDF]

, 1917
F. Parkes Weber
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Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

Annals of Neurology, EarlyView.
Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate ...
Berta Estévez‐Arias, Siiri Sarv, Nathalie Bonello‐Palot, Laura Carrera‐García, Carlos Ortez, Jesica Expósito‐Escudero, Delia Yubero, Jordi Muchart, Emilien Delmont, Eve Õiglane‐Shlik, Teele Meren, Sanna Puusepp, Ülle Murumets, Gajja S. Salomons, Bjarne Udd, Liis Väli, Lara Cantarero, Carsten G. Bönnemann, Andrés Nascimento, Santiago Ramón‐Maiques, Katrin Õunap, Janet Hoenicka, Daniel Natera‐de Benito, Francesc Palau   +23 more
wiley   +1 more source

Infantile and early childhood onset of mitochondrial myopathy due to mutations in the TK2 gene with a phenotype of spinal muscular atrophy 5q: the first cases in Russia

Нервно-мышечные болезни, 2019
Introduction. Mitochondrial myopathy with thymidine kinase 2 deficiency and spinal muscular atrophy 5q (SMA-5q) are two potentially curable hereditary diseases with different levels of damage to the neuromuscular system and etiology.
S. A. Kurbatov, P. G. Tsygankova, K. Yu. Mollaeva, I. O. Bychkov, Yu. S. Itkis, V. V. Zabnenkova, Z. R. Umakhanova, L. G. Geybatova, E. Yu. Zakharova   +8 more
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Sections from a Case of Progressive Spinal Muscular Atrophy of Infants (Werdnig-Hoffmann Type) [PDF]

, 1913
L. G. Parsons
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