Progressive cerebellar ataxia in juvenile GM2-gangliosidosis type Sandhoff

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

Clinical and immunological predictors of baked egg tolerance in children with IgE-mediated hen's egg allergy: a cross-sectional diagnostic accuracy study.

European journal of pediatrics·2026

Anthropometric characteristics and nutrient intake among Korean children and adolescents with ADHD: analysis of KNHANES data, 2007-2021.

European journal of pediatrics·2026

The mediating effects of home environment on the relationship between maternal BMI and childhood obesity: Findings from the ECHO-wide cohort.

European journal of pediatrics·2026

Changes in the incidence and profile of pediatric tuberculosis in France from 2014 to 2023: impact of COVID-19 non-pharmaceutical interventions implementation and lifting.

European journal of pediatrics·2026

Association between insulin resistance and obstructive sleep apnea in non-diabetic children with obesity.

European journal of pediatrics·2026

Age limits and shared decision-making in paediatric healthcare: an exploratory survey of the Young European Academy of Paediatrics.

European journal of pediatrics·2026

Impulse Control Disorders Are Independent of Parkinson Disease Motor Subtypes.

medRxiv : the preprint server for health sciences·2026

Neuroinflammation-associated thalamocortical functional connectivity and cognition in older adults.

Journal of neuroinflammation·2026

Neuroglobin positively regulates YTHDF3 to restore mitophagy and suppress ferroptosis in sevoflurane-induced developmental neurotoxicity.

Chemico-biological interactions·2026

Repetitive nerve stimulation in juvenile myasthenia gravis: Diagnostic strategy and area decrement value.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026

Elevated primary motor cortex GABA in Parkinson's disease: 7T MR spectroscopy evidence.

Parkinsonism & related disorders·2026

Non-canonical modulation of mitochondrial ROS and dynamics by Netrin-3 drives inflammasome activation in cardiomyocytes.

International immunopharmacology·2026

Related Experiment Videos

Progressive cerebellar ataxia in juvenile GM2-gangliosidosis type Sandhoff

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.

Clinical and immunological predictors of baked egg tolerance in children with IgE-mediated hen's egg allergy: a cross-sectional diagnostic accuracy study.

Anthropometric characteristics and nutrient intake among Korean children and adolescents with ADHD: analysis of KNHANES data, 2007-2021.

The mediating effects of home environment on the relationship between maternal BMI and childhood obesity: Findings from the ECHO-wide cohort.

Changes in the incidence and profile of pediatric tuberculosis in France from 2014 to 2023: impact of COVID-19 non-pharmaceutical interventions implementation and lifting.

Association between insulin resistance and obstructive sleep apnea in non-diabetic children with obesity.

Age limits and shared decision-making in paediatric healthcare: an exploratory survey of the Young European Academy of Paediatrics.

Impulse Control Disorders Are Independent of Parkinson Disease Motor Subtypes.

Neuroinflammation-associated thalamocortical functional connectivity and cognition in older adults.

Neuroglobin positively regulates YTHDF3 to restore mitophagy and suppress ferroptosis in sevoflurane-induced developmental neurotoxicity.

Repetitive nerve stimulation in juvenile myasthenia gravis: Diagnostic strategy and area decrement value.

Elevated primary motor cortex GABA in Parkinson's disease: 7T MR spectroscopy evidence.

Non-canonical modulation of mitochondrial ROS and dynamics by Netrin-3 drives inflammasome activation in cardiomyocytes.

Related Experiment Videos

Progressive cerebellar ataxia in juvenile GM2-gangliosidosis type Sandhoff

Related Concept Videos

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