The V368i mutation in Twinkle does not segregate with AdPEO

Impact of compound heterozygous SDHA variants on mitochondrial function in pediatric with neurological disease.

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Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease.

Neurology. Genetics·2026

Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency.

Journal of inherited metabolic disease·2026

Cardiovascular involvement in glycogen storage diseases.

Nature reviews. Cardiology·2025

Comprehensive analysis of GDF15 as a biomarker in primary mitochondrial myopathies.

Molecular genetics and metabolism·2025

Aerobic capacity and muscle proteome: Insights from a mouse model.

Experimental physiology·2024

Genetic Modifiers of ABCA1 Activity Interact with APOE Isoforms to Mediate Alzheimer's Disease Risk.

Annals of neurology·2026

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3.

Annals of neurology·2026

Two Years of Ocrelizumab Treatment in Black and Hispanic People with Multiple Sclerosis in CHIMES: A Single-Arm Clinical Trial.

Annals of neurology·2026

Toward a Behavioral Reserve Model in Amyotrophic Lateral Sclerosis.

Annals of neurology·2026

Blood Biomarkers of Alzheimer's Disease and Patterns of Structural Brain Changes in the Community.

Annals of neurology·2026

Outcomes of Bilateral Globus Pallidus Internus Deep Brain Stimulation in GNAO1-Related Disorder: An International Multicenter Experience.

Annals of neurology·2026

Adult-Diagnosed Alagille Syndrome Presenting as Isolated Liver Disease.

Journal of clinical and experimental hepatology·2026

The Novel Allele, HLA-DPA1*01:213, With a Non-Synonymous Mutation in Exon 3.

HLA·2026

Adult subarachnoid hemorrhage from vein of Galen aneurysmal malformation due to ruptured feeder aneurysm: A case report with long-term MRI review.

Radiology case reports·2026

Novel Heterozygous Variant in RP1L1 Gene With Retinitis Pigmentosa Phenotype: A Case Report.

Ophthalmic surgery, lasers & imaging retina·2025

Large Infected Abdominal Wall Abscess Following a Minor Mechanical Strain: A Case Report.

Cureus·2025

[Main Trunk Interposition for Adult Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery Using a Great Saphenous Vein:Report of a Case].

Kyobu geka. The Japanese journal of thoracic surgery·2025

Related Experiment Videos

The V368i mutation in Twinkle does not segregate with AdPEO

Related Concept Videos

Impact of compound heterozygous SDHA variants on mitochondrial function in pediatric with neurological disease.

Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease.

Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency.

Cardiovascular involvement in glycogen storage diseases.

Comprehensive analysis of GDF15 as a biomarker in primary mitochondrial myopathies.

Aerobic capacity and muscle proteome: Insights from a mouse model.

Genetic Modifiers of ABCA1 Activity Interact with APOE Isoforms to Mediate Alzheimer's Disease Risk.

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3.

Two Years of Ocrelizumab Treatment in Black and Hispanic People with Multiple Sclerosis in CHIMES: A Single-Arm Clinical Trial.

Toward a Behavioral Reserve Model in Amyotrophic Lateral Sclerosis.

Blood Biomarkers of Alzheimer's Disease and Patterns of Structural Brain Changes in the Community.

Outcomes of Bilateral Globus Pallidus Internus Deep Brain Stimulation in GNAO1-Related Disorder: An International Multicenter Experience.

Adult-Diagnosed Alagille Syndrome Presenting as Isolated Liver Disease.

The Novel Allele, HLA-DPA1*01:213, With a Non-Synonymous Mutation in Exon 3.

Adult subarachnoid hemorrhage from vein of Galen aneurysmal malformation due to ruptured feeder aneurysm: A case report with long-term MRI review.

Novel Heterozygous Variant in RP1L1 Gene With Retinitis Pigmentosa Phenotype: A Case Report.

Large Infected Abdominal Wall Abscess Following a Minor Mechanical Strain: A Case Report.

[Main Trunk Interposition for Adult Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery Using a Great Saphenous Vein:Report of a Case].

Related Experiment Videos

The V368i mutation in Twinkle does not segregate with AdPEO

Related Concept Videos

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