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Last Updated: 10/31/2025

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Found 336 publications

Lack of myotubularin phosphatase activity is the main cause of X-linked Myotubular Myopathy.

Lack of myotubularin phosphatase activity is the main cause of X-linked Myotubular Myopathy.

Journal: JCI insight
Published: October 14, 2025

Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype.

Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype.

Journal: Journal of neuromuscular diseases
Published: September 19, 2025

Proteomic analysis of nemaline myopathy in infants reveals distinct common dysregulated proteins and cellular pathways.

Proteomic analysis of nemaline myopathy in infants reveals distinct common dysregulated proteins and cellular pathways.

Journal: Frontiers in neurology
Published: July 08, 2025

KLHL41 orchestrates sarcomere assembly and size to drive skeletal muscle hypertrophy in vivo.

KLHL41 orchestrates sarcomere assembly and size to drive skeletal muscle hypertrophy in vivo.

Journal: bioRxiv : the preprint server for biology
Published: June 12, 2025

Parents as First Responders: Experiences of Emergency Care in Children with Nemaline Myopathy: A Qualitative Study.

Parents as First Responders: Experiences of Emergency Care in Children with Nemaline Myopathy: A Qualitative Study.

Journal: Nursing reports (Pavia, Italy)
Published: May 26, 2025

Assessing Tracheoinnominate Fistula in Patients With Neuromuscular Disorders: A Case Report.

Assessing Tracheoinnominate Fistula in Patients With Neuromuscular Disorders: A Case Report.

Journal: The Laryngoscope
Published: April 01, 2025

A systematic review on motor outcome measures in congenital myopathy.

A systematic review on motor outcome measures in congenital myopathy.

Journal: Neuromuscular disorders : NMD
Published: February 26, 2025

Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study.

Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study.

Journal: Journal of neuromuscular diseases
Published: February 20, 2025

Aberrant lysosomal dynamics disrupt myogenesis via mTORC1 signalling in X-linked myotubular myopathy.

Aberrant lysosomal dynamics disrupt myogenesis via mTORC1 signalling in X-linked myotubular myopathy.

Journal: Brain : a journal of neurology
Published: February 11, 2025

A novel DNM2 variant associated with centronuclear myopathy: a case report.

A novel DNM2 variant associated with centronuclear myopathy: a case report.

Journal: Frontiers in genetics
Published: January 20, 2025

Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion.

Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion.

Journal: Research square
Published: January 07, 2025

Nemaline bodies are not always congenital: A case of sporadic late-onset nemaline myopathy (SLONM) with monoclonal gammopathy of undetermined significance (MGUS).

Nemaline bodies are not always congenital: A case of sporadic late-onset nemaline myopathy (SLONM) with monoclonal gammopathy of undetermined significance (MGUS).

Journal: Pathology international
Published: December 30, 2024
Showing 1-12 of 336

Last Updated: 10/31/2025