Prevalence of neuropsychiatric disorders in Duchenne and Becker muscular dystrophies: a systematic review and meta-analysis

C Pascual-Morena, I Cavero-Redondo… - Archives of Physical …, 2022 - Elsevier
Objective To estimate the prevalence of neuropsychiatric disorders, including autism
spectrum disorders (ASDs), attention-deficit hyperactivity disorder (ADHD), depression …

Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?

L Bello, EP Hoffman, E Pegoraro - Nature Reviews Neurology, 2023 - nature.com
Patients with Duchenne muscular dystrophy (DMD) show clinically relevant phenotypic
variability, despite sharing the same primary biochemical defect (dystrophin deficiency) …

Multivariate modeling of magnetic resonance biomarkers and clinical outcome measures for Duchenne muscular dystrophy clinical trials

S Kim, RJ Willcocks, MJ Daniels… - CPT …, 2023 - Wiley Online Library
Although regulatory agencies encourage inclusion of imaging biomarkers in clinical trials for
Duchenne muscular dystrophy (DMD), industry receives minimal guidance on how to use …

Global prevalence of intellectual developmental disorder in dystrophinopathies: A systematic review and meta‐analysis

C Pascual‐Morena, I Cavero‐Redondo… - … Medicine & Child …, 2023 - Wiley Online Library
Aim To estimate the global prevalence of intellectual developmental disorder (IDD) and the
IDD prevalence–genotype association in Becker muscular dystrophy (BMD) or Duchenne …

Systemic treatment of body‐wide Duchenne muscular dystrophy symptoms

P Konieczny - Clinical Pharmacology & Therapeutics, 2024 - Wiley Online Library
Duchenne muscular dystrophy (DMD) is a fatal X‐linked disease that leads to premature
death due to the loss of dystrophin. Current strategies predominantly focus on the …

Epileptic disorders in Becker and Duchenne muscular dystrophies: a systematic review and meta-analysis

C Pascual-Morena, V Martínez-Vizcaíno, A Saz-Lara… - Journal of …, 2022 - Springer
Dystrophin alterations in the brain have been associated with an increased risk of epilepsy
in Becker and Duchenne muscular dystrophies (BMD and DMD). Moreover, an association …

Genetic modifiers of upper limb function in Duchenne muscular dystrophy

D Sabbatini, A Fusto, S Vianello, M Villa, J Janik… - Journal of …, 2022 - Springer
Genetic modifiers of Duchenne muscular dystrophy (DMD) are variants located in genes
different from the disease-causing gene DMD, but associated with differences in disease …

Intelligence quotient–genotype association in dystrophinopathies: A systematic review and meta‐analysis

C Pascual‐Morena, I Cavero‐Redondo… - Neuropathology and …, 2023 - Wiley Online Library
Aims Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) are
associated with intelligence quotients (IQs) lower than the normative values, and it is …

The dystrophinopathies

BH Lee - CONTINUUM: Lifelong Learning in Neurology, 2022 - journals.lww.com
The Dystrophinopathies : CONTINUUM: Lifelong Learning in Neurology Account Register
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Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis

C Pascual-Morena, I Cavero-Redondo… - Journal of …, 2023 - content.iospress.com
Background: Dystrophinopathies are associated with neuropsychiatric disorders due to
alterations in dystrophin/DMD expression. Objective: The objective was to estimate the …