Leigh syndrome: historical perspective and clinical variations

Dysfunction of proprioceptive sensory synapses is a pathogenic event and therapeutic target in mice and humans with spinal muscular atrophy.

medRxiv : the preprint server for health sciences·2024

Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype.

Neurology·2011

Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy.

Neurology·2010

Expanding CEP290 mutational spectrum in ciliopathies.

American journal of medical genetics. Part A·2009

Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA((Leu)) gene (m.3243A>G).

Journal of inherited metabolic disease·2008

The changing natural history of spinal muscular atrophy type 1.

Neurology·2007

HILPDA Repression Induces Methuosis in Breast and Liver Cancer Cells by Dysregulating Lipid Metabolism.

BioFactors (Oxford, England)·2026

miR-200a-3p Targets and Downregulates CDC25B Expression to Inhibit the Progression of Hepatocellular Carcinoma.

BioFactors (Oxford, England)·2026

Differential Modulation of Keratinocyte Proliferation, Differentiation, and Barrier Function by Hemp Oil, Blackcurrant Seed Oil, and Vitamin D3 Under Atopic-Associated Cytokine Stimulation.

BioFactors (Oxford, England)·2026

Growth Differentiation Factor 15 (GDF15) Protects Against Sepsis-Associated Acute Kidney Injury via Suppression of TLR4-MyD88-NF-κB Signaling and Ferroptosis.

BioFactors (Oxford, England)·2026

Adenosine Receptor 3 Antagonism Suppresses Adipogenesis via the EREG-EGFR-Leptin Axis in Multipotent Cells.

BioFactors (Oxford, England)·2026

Pulp Callus Extract From Malus domestica var. Mela Rosa Marchigiana Preserves Intestinal Barrier Integrity and Confers Neuroprotection in a Gut-Brain Axis Co-Culture Model.

BioFactors (Oxford, England)·2026

Age at first drink below 19 years and all-cause mortality in Chinese older adults: a 10-year prospective cohort study.

Frontiers in nutrition·2026

Place of Death in Canada: An Analysis of the Decedent Questionnaire of the Canadian Longitudinal Study on Aging.

Journal of palliative medicine·2026

Residential aircraft and road noise exposure, cognition, and Alzheimer's dementia in a US cohort of older adults.

Environmental epidemiology (Philadelphia, Pa.)·2026

An Analysis of Bi-directional Associations Between Self-Reported Residual Hearing and Loneliness: Findings from the Canadian Longitudinal Study on Aging.

Canadian journal on aging = La revue canadienne du vieillissement·2026

Community places visited and abandoned by people living with dementia in British Columbia, Canada: patterns and implications.

Frontiers in public health·2026

Bayesian sex estimation from permanent canine metrics in an Argentinian documented collection.

Archives of oral biology·2026

Related Experiment Videos

Leigh syndrome: historical perspective and clinical variations

Related Concept Videos

Dysfunction of proprioceptive sensory synapses is a pathogenic event and therapeutic target in mice and humans with spinal muscular atrophy.

Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype.

Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy.

Expanding CEP290 mutational spectrum in ciliopathies.

Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA((Leu)) gene (m.3243A>G).

The changing natural history of spinal muscular atrophy type 1.

HILPDA Repression Induces Methuosis in Breast and Liver Cancer Cells by Dysregulating Lipid Metabolism.

miR-200a-3p Targets and Downregulates CDC25B Expression to Inhibit the Progression of Hepatocellular Carcinoma.

Differential Modulation of Keratinocyte Proliferation, Differentiation, and Barrier Function by Hemp Oil, Blackcurrant Seed Oil, and Vitamin D3 Under Atopic-Associated Cytokine Stimulation.

Growth Differentiation Factor 15 (GDF15) Protects Against Sepsis-Associated Acute Kidney Injury via Suppression of TLR4-MyD88-NF-κB Signaling and Ferroptosis.

Adenosine Receptor 3 Antagonism Suppresses Adipogenesis via the EREG-EGFR-Leptin Axis in Multipotent Cells.

Pulp Callus Extract From Malus domestica var. Mela Rosa Marchigiana Preserves Intestinal Barrier Integrity and Confers Neuroprotection in a Gut-Brain Axis Co-Culture Model.

Age at first drink below 19 years and all-cause mortality in Chinese older adults: a 10-year prospective cohort study.

Place of Death in Canada: An Analysis of the Decedent Questionnaire of the Canadian Longitudinal Study on Aging.

Residential aircraft and road noise exposure, cognition, and Alzheimer's dementia in a US cohort of older adults.

An Analysis of Bi-directional Associations Between Self-Reported Residual Hearing and Loneliness: Findings from the Canadian Longitudinal Study on Aging.

Community places visited and abandoned by people living with dementia in British Columbia, Canada: patterns and implications.

Bayesian sex estimation from permanent canine metrics in an Argentinian documented collection.

Related Experiment Videos

Leigh syndrome: historical perspective and clinical variations

Related Concept Videos

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