Pelizaeus-Merzbacher disease: splice sites are nice sites for disease expression

Microbial community changes in a female rat model of Rett syndrome.

Progress in neuro-psychopharmacology & biological psychiatry·2021

Clinical severity and quality of life in children and adolescents with Rett syndrome.

Neurology·2011

Epilepsy and the natural history of Rett syndrome.

Neurology·2010

FXYD1, a modulator of Na,K-ATPase activity, facilitates female sexual development by maintaining gonadotrophin-releasing hormone neuronal excitability.

Journal of neuroendocrinology·2009

Early progressive encephalopathy in boys and MECP2 mutations.

Neurology·2006

Clinical and genetic heterogeneity in benign hereditary chorea.

Neurology·2002

Natural Course and Clinical Outcomes of Patients With Hemorrhagic Moyamoya Disease: A Large Cohort Study.

Neurology·2026

Characteristics of Patients With Bibrachial Amyotrophy Due to Spontaneous Spinal CSF Leaks.

Neurology·2026

Clinical Reasoning: A 59-Year-Old Man With Delayed Electric Shock-Like Sensations After a Fall.

Neurology·2026

Metabolic Markers of MRI-Confirmed Lacunar Stroke: Observational and Mendelian Randomization Analyses.

Neurology·2026

Levodopa Use and Characteristics of Freezing-of-Gait in Patients With Parkinson Disease in the NS-Park and PPMI Cohorts.

Neurology·2026

Clinical Reasoning: A 60-Year-Old Diabetic Woman With Fluctuating Visual Disturbances.

Neurology·2026

Quantitative Muscle MRI Fat Fraction as a Biomarker of Disease Severity in Mitochondrial Myopathies.

Journal of cachexia, sarcopenia and muscle·2026

Pseudomonas shiyinii ST4 inhibits sexual mating of Sporisorium scitamineum through the GacS/GacA two-component system and the mib1 gene cluster.

Applied and environmental microbiology·2026

Unexpected finding of AA amyloidosis with novel genetic variants in the MEFV gene in patients undergoing kidney biopsy for proteinuria. A case series.

Journal of nephrology·2026

A Genetically Encoded Marker for Imaging of Internal Plasmodium Membranes.

Molecular microbiology·2026

Spire1 and active INF2 promote ER-mitochondria contacts to enhance mitochondrial fission factor-mediated mitochondrial fission.

The FEBS journal·2026

Normal neuroimaging in an infant with SUCLA2-related mitochondrial DNA depletion syndrome type 5: a case report of likely pathogenic variant.

Oxford medical case reports·2026

Related Experiment Videos

Pelizaeus-Merzbacher disease: splice sites are nice sites for disease expression

Related Concept Videos

Microbial community changes in a female rat model of Rett syndrome.

Clinical severity and quality of life in children and adolescents with Rett syndrome.

Epilepsy and the natural history of Rett syndrome.

FXYD1, a modulator of Na,K-ATPase activity, facilitates female sexual development by maintaining gonadotrophin-releasing hormone neuronal excitability.

Early progressive encephalopathy in boys and MECP2 mutations.

Clinical and genetic heterogeneity in benign hereditary chorea.

Natural Course and Clinical Outcomes of Patients With Hemorrhagic Moyamoya Disease: A Large Cohort Study.

Characteristics of Patients With Bibrachial Amyotrophy Due to Spontaneous Spinal CSF Leaks.

Clinical Reasoning: A 59-Year-Old Man With Delayed Electric Shock-Like Sensations After a Fall.

Metabolic Markers of MRI-Confirmed Lacunar Stroke: Observational and Mendelian Randomization Analyses.

Levodopa Use and Characteristics of Freezing-of-Gait in Patients With Parkinson Disease in the NS-Park and PPMI Cohorts.

Clinical Reasoning: A 60-Year-Old Diabetic Woman With Fluctuating Visual Disturbances.

Quantitative Muscle MRI Fat Fraction as a Biomarker of Disease Severity in Mitochondrial Myopathies.

Pseudomonas shiyinii ST4 inhibits sexual mating of Sporisorium scitamineum through the GacS/GacA two-component system and the mib1 gene cluster.

Unexpected finding of AA amyloidosis with novel genetic variants in the MEFV gene in patients undergoing kidney biopsy for proteinuria. A case series.

A Genetically Encoded Marker for Imaging of Internal Plasmodium Membranes.

Spire1 and active INF2 promote ER-mitochondria contacts to enhance mitochondrial fission factor-mediated mitochondrial fission.

Normal neuroimaging in an infant with SUCLA2-related mitochondrial DNA depletion syndrome type 5: a case report of likely pathogenic variant.

Related Experiment Videos

Pelizaeus-Merzbacher disease: splice sites are nice sites for disease expression

Related Concept Videos

Related Articles