End of Life in Boys and Young Men With Duchenne Muscular Dystrophy–The Perspective of Dying Men and Their Families: A Systematic Review and Thematic …
J Chrastina, M Haroková - OMEGA-Journal of Death and …, 2023 - journals.sagepub.com
Understanding the perceptions and experiences related to the end of life (EoL) of boys and
men with Duchenne muscular dystrophy from their own and/or family perspective is limited …
men with Duchenne muscular dystrophy from their own and/or family perspective is limited …
Systematic review on family functioning in families of children with rare diseases
The present study is a systematic review of the research on family functioning in families
who have a child with a rare disease. The research was carried out using the databases …
who have a child with a rare disease. The research was carried out using the databases …
Prime editing strategies to mediate exon skipping in DMD gene
C Happi Mbakam, J Roustant, J Rousseau… - Frontiers in …, 2023 - frontiersin.org
Duchenne muscular dystrophy is a rare and lethal hereditary disease responsible for
progressive muscle wasting due to mutations in the DMD gene. We used the CRISPR-Cas9 …
progressive muscle wasting due to mutations in the DMD gene. We used the CRISPR-Cas9 …
Prime editing optimized RTT permits the correction of the c. 8713C> T mutation in DMD gene
Duchenne muscular dystrophy is a severe debilitating genetic disease caused by different
mutations in the DMD gene leading to the absence of dystrophin protein under the …
mutations in the DMD gene leading to the absence of dystrophin protein under the …
Predictors of overload in parents of children with neuromuscular diseases
AA Rodríguez, M García, O Martínez… - Frontiers in …, 2024 - frontiersin.org
Introduction Parents of children with neuromuscular diseases experience multiple difficulties
in their daily lives that affect their physical and psychological health. The risk factors for …
in their daily lives that affect their physical and psychological health. The risk factors for …
Revisión sistemática sobre el funcionamiento familiar en familias con un hijo con una enfermedad poco frecuente
Las enfermedades poco frecuentes (EPOF) son enfermedades que afectan a un número
reducido de personas, con una prevalencia menor o igual a 1 persona cada 2.000. Estas se …
reducido de personas, con una prevalencia menor o igual a 1 persona cada 2.000. Estas se …
[HTML][HTML] Exploring the dynamics of caring for a child with a Terminal Illness of Duchenne Muscular Dystrophy (DMD) and Its copious components on the caregivers
A Balidemaj, P Parsamanesh, M Vysochyn - Cureus, 2023 - ncbi.nlm.nih.gov
Duchenne muscular dystrophy (DMD) is an inherited disorder that results in increasing
muscle degeneration and muscle weakness because of a mutation in the dystrophin protein …
muscle degeneration and muscle weakness because of a mutation in the dystrophin protein …
Workshop report: Workshop on psychiatric prescribing and psychology testing and intervention in children and adults with Duchenne muscular dystrophy
L Bouquillon, D Bindman, J Hendriksen… - Research Ideas and …, 2024 - repository.uel.ac.uk
This workshop aimed at summarising knowledge and key issues in psychiatric prescribing
and psychological testing in children and adults with Duchenne muscular dystrophy (DMD) …
and psychological testing in children and adults with Duchenne muscular dystrophy (DMD) …
Возможность терапии, направленной на пропуск экзонов, у российских пациентов с миодистрофией Дюшенна: настоящее и будущее
ЕВ Зинина, МВ Булах, ОП Рыжкова… - Нервно-мышечные …, 2024 - nmb.abvpress.ru
Аннотация Введение. Мышечная дистрофия Дюшенна (МДД) является наиболее часто
встречающейся формой мышечной дистрофии у детей, манифестирующей в возрасте …
встречающейся формой мышечной дистрофии у детей, манифестирующей в возрасте …
[PDF][PDF] Développement d'une approche de thérapie génique de la dystrophie musculaire de Duchenne en utilisant la technologie CRISPR-Cas9 Prime editing
C Happi Mbakam - 2023 - corpus.ulaval.ca
Résumé La Dystrophie Musculaire de Duchenne (DMD) est une maladie neuromusculaire
héréditaire causée par des mutations dans le gène DMD codant pour la dystrophine, une …
héréditaire causée par des mutations dans le gène DMD codant pour la dystrophine, une …