Protracted juvenile neuronal ceroid-lipofuscinosis

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

High-Protein Diet Ameliorates Cardiomyopathy in a Cardiac-Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis.

Journal of inherited metabolic disease·2026

Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.

Journal of inherited metabolic disease·2026

Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.

Journal of inherited metabolic disease·2026

Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.

Journal of inherited metabolic disease·2026

Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients.

Journal of inherited metabolic disease·2026

Liver Cancer in Methylmalonic and Propionic Acidemias: A Rare Complication? A Clinico-Pathological Study of 24 Livers.

Journal of inherited metabolic disease·2026

JCp-1-NP: New and compiled LA-ICP-MS elemental compositional data of the nano-powdered reference material.

Scientific data·2026

A Novel Machine Learning-Based Semi-Automated Phantom-Less QCT Model for Osteoporosis Screening on 100 kVp Ultra-Low-Dose Chest CT: A Phantom Study.

Academic radiology·2026

Deep learning for CT-less attenuation correction synthesis in non-small cell lung cancer: A proof-of-concept evaluated for quantitative and physical characteristics.

Medical dosimetry : official journal of the American Association of Medical Dosimetrists·2026

Design and development of inhalable cefepime dry powder targeting P. aeruginosa infections.

European journal of pharmaceutics and biopharmaceutics : official journal of Arbeitsgemeinschaft fur Pharmazeutische Verfahrenstechnik e.V·2026

Protocol for the isolation and characterization of extracellular vesicles from human mesenchymal stromal cells.

STAR protocols·2026

Factors associated with the presence, and longitudinal progression of, perivascular spaces: An Exposome-Wide Analysis in the UK Biobank.

International journal of stroke : official journal of the International Stroke Society·2026

Related Experiment Videos

Protracted juvenile neuronal ceroid-lipofuscinosis

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.

High-Protein Diet Ameliorates Cardiomyopathy in a Cardiac-Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis.

Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.

Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.

Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.

Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients.

Liver Cancer in Methylmalonic and Propionic Acidemias: A Rare Complication? A Clinico-Pathological Study of 24 Livers.

JCp-1-NP: New and compiled LA-ICP-MS elemental compositional data of the nano-powdered reference material.

A Novel Machine Learning-Based Semi-Automated Phantom-Less QCT Model for Osteoporosis Screening on 100 kVp Ultra-Low-Dose Chest CT: A Phantom Study.

Deep learning for CT-less attenuation correction synthesis in non-small cell lung cancer: A proof-of-concept evaluated for quantitative and physical characteristics.

Design and development of inhalable cefepime dry powder targeting P. aeruginosa infections.

Protocol for the isolation and characterization of extracellular vesicles from human mesenchymal stromal cells.

Factors associated with the presence, and longitudinal progression of, perivascular spaces: An Exposome-Wide Analysis in the UK Biobank.

Related Experiment Videos

Protracted juvenile neuronal ceroid-lipofuscinosis

Related Concept Videos

Related Articles