Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes [PDF]
Introduction: Riboflavin transporter deficiency type 2 (RTD2) is a rare neurodegenerative autosomal recessive disease caused by mutations in the SLC52A2 gene encoding the riboflavin transporters, RFVT2.
Ambrosini, Elena +12 more
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The effect of inspiratory muscle training on clinical outcomes and health-related quality of life in children with neuromuscular disease and respiratory muscle weakness. [PDF]
, 2022 Background: Progressive respiratory muscle weakness and ineffective cough contributes to pulmonary morbidity and mortality in children with neuromuscular disease. Inspiratory muscle training aims to preserve or improve respiratory muscle strength, reduce
Human, Anri
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PROTEIN MISFOLDING IN KENNEDY¿S DISEASE AND IN RELATED MOTOR NEURON DISEASES (MNDS) [PDF]
, 2015 Motor neuron diseases, like spinobulbar muscular atrophy (SBMA) and amyotrophic lateral sclerosis (ALS) are characterized by the presence of inclusions or aggregates of proteinaceous materials.
R.M. Cristofani
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The effect of spinal cord injury on sexual function. [PDF]
, 2019 Spinal cord injury (SCI) causes severe neurological impairment with widespread motor, autonomic and sensory deficits, leading to a substantial quality of life impairment.
Steadman, Casey J.
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Neuroimaging in patients with sensory neuronopathy [PDF]
, 2018 Orientador: Marcondes Cavalcante França JuniorTese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências MédicasResumo: Introdução: As neuronopatias sensitivas (NS) constituem um subgrupo de doenças do sistema nervoso periférico cuja ...
Casseb, Raphael Fernandes, 1988-
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Omental transplantation for neurodegenerative diseases [PDF]
, 2014 : Up to date, almost all researchers consider that there is still no effective therapy for neurodegenerative diseases (NDDs) and therefore, these diseases are incurable.
Hernando Rafael
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Avaliação de sistemas de reparo de DNA em poliglutaminopatias com ênfase na doença de Machado-Joseph [PDF]
, 2020 A ataxia espinocerebelar tipo 3, ou doença de Machado-Joseph (SCA3/MJD), pertence a um grupo de doenças neurodegenerativas relacionadas à idade. A SCA3/MJD é causada por uma expansão de repetições CAG no DNA, que se reflete a nível proteico com o acúmulo
Mergener, Rafaella
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Distribución mutacional y correlación genotipo-fenotipo del síndrome de Charcot-Marie-Tooth en la Comunidad Valenciana [PDF]
, 2015 i. Objetivo general: Describir la distribución mutacional de pacientes con CMT evaluados en el Hospital Universitari i Politècnic La Fe durante el periodo de 1990-2012 y compararla con otras poblaciones El análisis de la distribución mutacional de ...
Sivera Mascaró, Rafael
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Neuropathy in childhood mitochondrial disease, including riboflavin transporter deficiency: phenotype, neurophysiology and disease-modifying therapy in a recently described treatable disorder [PDF]
, 2015 Introduction: Defining the neurophysiological features of the peripheral neuropathy associated with childhood mitochondrial disease, including the neuropathy/neuronopathy associated with Brown-Vialetto-Van Laere syndrome (BVVL), will aid in classifying ...
Menezes, Manoj Peter
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A review of cases of motor neurone disease seen at Groote Schuur Hospital from 2005 to 2010 [PDF]
, 2014 Includes bibliographical references.Motor neurone disease (MND) is a rare progressive neurodegenerative disorder in which selective degeneration of the motor neurones of the brain and spinal cord occurs.
Daude, Amina
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