Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Alicia Aurora Rodriguez"'
Publikováno v:
Muscles, Vol 2, Iss 2, Pp 164-176 (2023)
Limb-girdle muscular dystrophies (LGMDs) represent a group of muscle diseases due to monogenic mutations encoding muscle proteins that are defective for heterozygous and homozygous mutations prevalent in certain regions. Advances in knowledge of thei
Externí odkaz:
https://doaj.org/article/14552464cc694881a9799538b42fcadf
Publikováno v:
Muscles, Vol 2, Iss 2, Pp 177-186 (2023)
We describe two cases of myofibrillar myopathies, due to different gene mutations. The first was a girl with cardiomyopathy and sensory axonal neuropathy that underwent cardiac transplantation at 15 years and suffers from rotatory scoliosis due to BA
Externí odkaz:
https://doaj.org/article/b572b54cd38947ea8c4c2268e314440f
Publikováno v:
Monday, April 24.
Effects of Coping Strategies on Health-Related Quality of Life of People with Neuromuscular Diseases
Autor:
Irune García, Alicia Aurora Rodríguez, Corrado Angelini, Maddalen García-Sanchoyerto, Patricia Espinosa-Blanco, Oscar Martínez
Publikováno v:
Muscles, Vol 3, Iss 2, Pp 110-120 (2024)
Neuromuscular diseases (NMD) cover a broad spectrum of different rare diagnoses in which the primary lesion is in the peripheral nervous system. The impairment caused by an NMD does not only interfere with physical status but also has a clear impact
Externí odkaz:
https://doaj.org/article/162b39d89e2f43b8b0c3db6472ab25ee
Autor:
Maddalen García-Sanchoyerto, Monika Salgueiro, Javiera Ortega, Alicia Aurora Rodríguez, Pamela Parada-Fernández, Imanol Amayra
Publikováno v:
Healthcare, Vol 12, Iss 16, p 1582 (2024)
Myasthenia gravis (MG) is a neuromuscular disease of autoimmune etiology and chronic evolution. In addition to the muscle weakness and fatigue that characterize MG, in some studies patients show an inferior performance in cognitive tasks and difficul
Externí odkaz:
https://doaj.org/article/4e3e021a7ade452f9f90752906e8da10
Autor:
Paula Pérez-Núñez, Clare O’Callaghan, Juan Francisco López-Paz, Aitana Ruiz de Lazcano, Alicia Aurora Rodríguez, Imanol Amayra
Publikováno v:
Frontiers in Psychology, Vol 15 (2024)
IntroductionInformal caregivers of elderly people with dependency (EPD) provide intensive care that can affect their quality of life (QoL). Psychosocial interventions such as music therapy are important to work on their self-care. The aim of this stu
Externí odkaz:
https://doaj.org/article/0386e1f997884f32bdd49c70fe003855
Publikováno v:
Muscles, Vol 2, Iss 3, Pp 274-285 (2023)
The present study is the first research that analyzes the quality of life (QoL) of people affected by a dominant form of limb–girdle muscular dystrophy, specifically limb–girdle muscular dystrophy D2 (LGMD-D2). Additionally, clinical forms of the
Externí odkaz:
https://doaj.org/article/e924b58ba7a9421dbc15782315bac475
Autor:
Irune García, Oscar Martínez, Juan Francisco López-Paz, Maitane García, Alicia Aurora Rodríguez, Imanol Amayra
Publikováno v:
Frontiers in Psychology, Vol 14 (2024)
IntroductionPediatric muscular dystrophies (MDs) are a heterogeneous group of rare neuromuscular diseases characterized by progressive muscle degeneration. A neuropsychosocial approach is crucial for these patients due to associated cognitive, behavi
Externí odkaz:
https://doaj.org/article/b6c87751bcf3407d9c167b58659ebbd2
Autor:
Sarah Berrocoso, Imanol Amayra, Esther Lázaro, Oscar Martínez, Juan Francisco López-Paz, Maitane García, Manuel Pérez, Mohammad Al-Rashaida, Alicia Aurora Rodríguez, Paula Maria Luna, Paula Pérez-Núñez, Raquel Blanco, Julián Nevado
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)
Abstract Background Wolf-Hirschhorn Syndrome (WHS) is a rare, congenital disease characterized by a distinctive facial phenotype, seizures, intellectual disability and developmental delay, and pre and postnatal growth requiring lifelong care. The psy
Externí odkaz:
https://doaj.org/article/3a65fe679b5642db86bc3c0737387eaf
Autor:
Oscar Martínez, Imanol Amayra, Juan Francisco López-Paz, Esther Lázaro, Patricia Caballero, Irune García, Alicia Aurora Rodríguez, Maitane García, Paula María Luna, Paula Pérez-Núñez, Jaume Barrera, Nicole Passi, Sarah Berrocoso, Manuel Pérez, Mohammad Al-Rashaida
Publikováno v:
Frontiers in Psychology, Vol 12 (2021)
Rare neuromuscular diseases (RNMDs) are a group of pathologies characterized by a progressive loss of muscular strength, atrophy, fatigue, and other muscle-related symptoms, which affect quality of life (QoL) levels. The low prevalence, high geograph
Externí odkaz:
https://doaj.org/article/68588013866f4433baca0136c7d013a0