Congenital cytoplasmic body myopathy: case report

Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog.

Molecular genetics and metabolism·2016

Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study.

Romanian journal of internal medicine = Revue roumaine de medecine interne·2011

Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1.

Neuropediatrics·2010

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.

Neurology·2010

Macrophagic myofasciitis plus (distinct types of muscular dystrophy).

Neuropediatrics·2010

Consequences of mutations within the C terminus of the FHL1 gene.

Neurology·2009

A Newly Identified YIF1B Frameshift Variant Causing Kaya-Barakat-Masson Syndrome.

Journal of child neurology·2026

Seizure Action Plans Beyond the Neurology Clinic: What Emergency, School, and Primary Care Teams Need to Know for Children With Epilepsy.

Journal of child neurology·2026

Intrafamilial Variability in 2 Siblings With TANGO2-Related Disorder.

Journal of child neurology·2026

Pediatric Seizure First-Aid Content on Social Media: Accuracy, Educational Quality, and Engagement Across Platforms.

Journal of child neurology·2026

Global, Regional, and National Epidemiology of Attention Deficit Hyperactivity Disorder in Children From 1990 to 2021, with Projections to 2051.

Journal of child neurology·2026

Cognitive and Developmental Neuroscience in Nigeria: Challenges, Advances, and Opportunities.

Journal of child neurology·2026

Recurrent Nephrolithiasis in Congenital Cystinuria With a Complete Duplex Collecting System: A Case Report.

Cureus·2026

Long non-coding RNAs in the CFTR locus: New transcriptional regulators of CFTR gene expression.

Molecular therapy. Nucleic acids·2026

Calcified Thoracic Disc Herniation: Surgical Management, Surgical Approaches, and Decision-Making.

Orthopedic reviews·2026

Double Thoracic Duct Cyst: Case Report and Review of the Literature.

Cureus·2026

Synergistic enhancement of curcumin bioaccessibility via pH-responsive sanxan-chitosan core-shell hydrogel beads: a strategic formulation for intestinal-targeted delivery.

Food chemistry·2026

Chiari I Malformation as a Human Disease Model of Cerebellar Cognitive-Affective Dysfunction.

Cerebellum (London, England)·2026

Related Experiment Videos

Congenital cytoplasmic body myopathy: case report

Related Concept Videos

Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog.

Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study.

Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1.

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.

Macrophagic myofasciitis plus (distinct types of muscular dystrophy).

Consequences of mutations within the C terminus of the FHL1 gene.

A Newly Identified YIF1B Frameshift Variant Causing Kaya-Barakat-Masson Syndrome.

Seizure Action Plans Beyond the Neurology Clinic: What Emergency, School, and Primary Care Teams Need to Know for Children With Epilepsy.

Intrafamilial Variability in 2 Siblings With TANGO2-Related Disorder.

Pediatric Seizure First-Aid Content on Social Media: Accuracy, Educational Quality, and Engagement Across Platforms.

Global, Regional, and National Epidemiology of Attention Deficit Hyperactivity Disorder in Children From 1990 to 2021, with Projections to 2051.

Cognitive and Developmental Neuroscience in Nigeria: Challenges, Advances, and Opportunities.

Recurrent Nephrolithiasis in Congenital Cystinuria With a Complete Duplex Collecting System: A Case Report.

Long non-coding RNAs in the CFTR locus: New transcriptional regulators of CFTR gene expression.

Calcified Thoracic Disc Herniation: Surgical Management, Surgical Approaches, and Decision-Making.

Double Thoracic Duct Cyst: Case Report and Review of the Literature.

Synergistic enhancement of curcumin bioaccessibility via pH-responsive sanxan-chitosan core-shell hydrogel beads: a strategic formulation for intestinal-targeted delivery.

Chiari I Malformation as a Human Disease Model of Cerebellar Cognitive-Affective Dysfunction.

Related Experiment Videos

Congenital cytoplasmic body myopathy: case report

Related Concept Videos

Related Articles