Enfermedades neuromusculares - Open Access .click

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Enfermedades neuromusculares I (Comunicaciones orales)

Neurology Perspectives, 2023
exaly +4 more sources

Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies. [PDF]

Eur J Neurol
This study assesses muscle MRI features for the differential diagnosis of patients with distal myopathies and distal hereditary motor neuropathies (dHMNs). A reticular pattern of fat infiltration, together with diffuse and marked involvement of intrinsic foot muscles, emerged as characteristic of dHMNs.
Payá M +14 more
europepmc +2 more sources

Enfermedades neuromusculares catastrófi cas

Neurología, 2010
Resumen: El neurólogo debe anticipar y reconocer el inicio de la insuficiencia respiratoria en los pacientes neuromusculares. La sintomatología varía en función de la velocidad de instauración de la debilidad de la musculatura respiratoria.
J.L. Muñoz Blanco
doaj +2 more sources

Creation of an iPSC-Based Skeletal Muscle Model of McArdle Disease Harbouring the Mutation c.2392T>C (p.Trp798Arg) in the PYGM Gene [PDF]

Biomedicines, 2023
McArdle disease is a rare autosomal recessive condition caused by mutations in the PYGM gene. This gene encodes the skeletal muscle isoform of glycogen phosphorylase or myophosphorylase.
Victoria Cerrada +3 more
doaj +2 more sources

Pruebas cronometradas en pacientes deambuladores con enfermedades neuromusculares

Argentinian Journal of Respiratory and Physical Therapy, 2022
Las enfermedades neuromusculares se caracterizan por debilidad muscular progresiva, que afecta la deambulación y el desempeño en actividades funcionales como las transferencias, correr, saltar, subir y bajar rampas o escaleras, entre otras.
Julieta Mozzoni
doaj +4 more sources

Enfermedades neuromusculares III (Comunicaciones orales)

Neurology Perspectives, 2023
doaj +2 more sources

Caracterización neurofisiológica de la función de fibra pequeña en mujeres heterocigotas con enfermedad de Fabry

Acta Neurológica Colombiana, 2021
INTRODUCCIÓN: La enfermedad de Fabry (EF) es una enfermedad genética, causada por el déficit de la enzima alfa galactosidasa A (?-Gal A), lo que provoca la acumulación de glicoesfingolípidos en los tejidos.
Sandra Milena Castellar-Leones +3 more
doaj +1 more source

Physical fatigue and perceived fatigability in adolescents and adults with spinal muscular atrophy: A pilot study

Neurology Perspectives, 2022
Introduction: Fatigability is a frequent phenomenon in spinal muscular atrophy (SMA). However, there is a lack of scales designed for and validated in SMA patients to determine the frequency and impact on daily life of physical fatigue and perceived ...
M.C. Domine +6 more
doaj +1 more source

Resúmenes de los trabajos sobre las Enfermedades Neuromusculares

Medisur, 2010
Las enfermedades neuromusculares constituyen un conjunto de afectaciones que afectan las neuronas motoras periférica, las vías motoras eferentes o los efectores (músculos esqueléticos). Sus manifestaciones clínicas son muy variadas y dependen de la causa
Congreso Nacional de Neurología
doaj +3 more sources

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

Clinical Genetics, Volume 101, Issue 5-6, Page 481-493, May-June 2022., 2022
Abstract CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in ...
Juan Luque +371 more
wiley +1 more source

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