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Last Updated: 10/31/2025

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Found 936 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

Pearls & Oy-sters: Acute Obstructive Hydrocephalus Co-Occurrence With Vigabatrin-Associated MRI Changes in an Infant With LIS1-Related Classical Lissencephaly.

Pearls & Oy-sters: Acute Obstructive Hydrocephalus Co-Occurrence With Vigabatrin-Associated MRI Changes in an Infant With LIS1-Related Classical Lissencephaly.

Journal: Neurology
Published: September 26, 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

Neuropathological findings of very low-density lipoprotein receptor-related cerebellar hypoplasia in a full-term fetus.

Neuropathological findings of very low-density lipoprotein receptor-related cerebellar hypoplasia in a full-term fetus.

Journal: Journal of neuropathology and experimental neurology
Published: September 20, 2025

Diagnosis of Lissencephaly in a Neonate After Antenatal Polyhydramnios and Suspicion of Fetal Esophageal Atresia: A Case Report.

Diagnosis of Lissencephaly in a Neonate After Antenatal Polyhydramnios and Suspicion of Fetal Esophageal Atresia: A Case Report.

Journal: Cureus
Published: September 17, 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

Domain specific phenotypic expansion associated with variants in MACF1.

Domain specific phenotypic expansion associated with variants in MACF1.

Journal: medRxiv : the preprint server for health sciences
Published: July 16, 2025
Showing 1-12 of 936

Last Updated: 10/31/2025