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Last Updated: 10/31/2025

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Found 228 publications

Dysfunctional CRPPA is responsible for recessively inherited Hereford hydrocephalus with muscular dystrophy and retinal dysplasia.

Dysfunctional CRPPA is responsible for recessively inherited Hereford hydrocephalus with muscular dystrophy and retinal dysplasia.

Journal: Veterinary pathology
Published: October 09, 2025

Response to response to the letter to the editor "Decoding the pathophysiological role of Fukutin in Fukuyama congenital muscular dystrophy".

Response to response to the letter to the editor "Decoding the pathophysiological role of Fukutin in Fukuyama congenital muscular dystrophy".

Journal: Brain & development
Published: October 05, 2025

Corrigendum to "Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances" [Brain Dev. 47(5) (2025) 104437].

Corrigendum to "Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances" [Brain Dev. 47(5) (2025) 104437].

Journal: Brain & development
Published: September 27, 2025

Clinical and Genetic Landscape of Children With Congenital Muscular Dystrophies From North India.

Clinical and Genetic Landscape of Children With Congenital Muscular Dystrophies From North India.

Journal: Journal of child neurology
Published: September 22, 2025

Response to the letter to the editor "Decoding the pathophysiological role of Fukutin in Fukuyama congenital muscular dystrophy".

Response to the letter to the editor "Decoding the pathophysiological role of Fukutin in Fukuyama congenital muscular dystrophy".

Journal: Brain & development
Published: September 16, 2025

Decoding the pathophysiological role of fukutin in Fukuyama congenital muscular dystrophy.

Decoding the pathophysiological role of fukutin in Fukuyama congenital muscular dystrophy.

Journal: Brain & development
Published: September 11, 2025

Spontaneous retinal reattachment and novel vitreoretinal phenotype in muscle eye brain disease determined by fundus multimodal imaging.

Spontaneous retinal reattachment and novel vitreoretinal phenotype in muscle eye brain disease determined by fundus multimodal imaging.

Journal: European journal of ophthalmology
Published: September 04, 2025

Pathogenic mechanisms and clinical insights into B3GALNT2-related alpha-dystroglycanopathies.

Pathogenic mechanisms and clinical insights into B3GALNT2-related alpha-dystroglycanopathies.

Journal: Journal of neuromuscular diseases
Published: July 16, 2025

Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances.

Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances.

Journal: Brain & development
Published: May 18, 2025

Application of the Gross Motor Function Measure in children with conditions other than cerebral palsy: A systematic review.

Application of the Gross Motor Function Measure in children with conditions other than cerebral palsy: A systematic review.

Journal: Developmental medicine and child neurology
Published: March 09, 2025

Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial.

Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial.

Journal: Neuropsychopharmacology reports
Published: February 24, 2025

Cross-Sectional Study of the Association Between Plasma Brain Natriuretic Peptide Levels and Left Ventricular Shortening Fraction in Fukuyama Congenital Muscular Dystrophy.

Cross-Sectional Study of the Association Between Plasma Brain Natriuretic Peptide Levels and Left Ventricular Shortening Fraction in Fukuyama Congenital Muscular Dystrophy.

Journal: The Tohoku journal of experimental medicine
Published: November 20, 2024
Showing 1-12 of 228

Last Updated: 10/31/2025