Feed Preview

Fast Growing

Leigh Syndrome

Leigh Syndrome diagram by Miller et al, PLOS One
Miller et al, PLOS One

Leigh syndrome, caused by a dysfunction in mitochondrial energy metabolism, is an inherited, heterogeneous, and progressive neurodegenerative disorder of infancy and childhood. Discover the latest research on Leigh syndrome here.

Top 20 most recent papers

Mitochondrial Proteome of Affected Neurons in a Mouse Model of Leigh Syndrome

bioRxivDecember 30, 2019
Alejandro GellaAlbert Quintana

Gene replacement therapy provides benefit in an adult mouse model of Leigh syndrome

bioRxivJanuary 9, 2020
Robin Reynaud-DulaurierMichael Decressac
Neurology. Genetics

Delineating MT-ATP6 -associated disease: From isolated neuropathy to early onset neurodegeneration

Neurology. GeneticsFebruary 12, 2020
Claudia StendelATP6 Study Group
American Journal of Human Genetics

Pathogenic Bi-Allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency

American Journal of Human GeneticsDecember 24, 2019
Charlotte L AlstonRobert W Taylor
The Journal of Biological Chemistry

Allosteric regulation of menaquinone (vitamin K2) biosynthesis in the human pathogen Mycobacterium tuberculosis

The Journal of Biological ChemistryFebruary 8, 2020
Ghader BashiriJodie M Johnston
Journal of Internal Medicine

Shaping the mitochondrial inner membrane in health and disease

Journal of Internal MedicineFebruary 5, 2020
Lilia Colina-TenorioHeike Rampelt
Molecular Genetics and Metabolism Reports

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations

Molecular Genetics and Metabolism ReportsJanuary 8, 2020
S PajaresA Ribes
Annals of Clinical and Translational Neurology

Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening

Annals of Clinical and Translational NeurologySeptember 27, 2019
Majid AlfadhelBrahim Tabarki
Journal of Applied Physiology

SS31, a Mitochondrially Targeted Antioxidant, Prevents Sepsis Induced Reductions in Diaphragm Strength and Endurance

Journal of Applied PhysiologyJanuary 17, 2020
Gerald S SupinskiLeigh Ann P Callahan
Hereditary Cancer in Clinical Practice

Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study

Hereditary Cancer in Clinical PracticeJanuary 1, 2020
Kathleen F MittendorfKatrina A B Goddard
Frontiers in Neurology

Commentary: Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations

Frontiers in NeurologyNovember 7, 2019
Josef Finsterer

See more papers from this feed

Related Feeds

Acute Disseminated Encephalomyelitis

Acute disseminated encephalomyelitis (ADEM) is a rare inflammatory demyelinating disease of the central nervous system. Discover the latest research on acute disseminated encephalomyelitis here.


Adrenoleukodystrophy (ALD), the most frequent peroxisomal disorder, is an X-linked disorder caused by a defect in the metabolism of long chain fatty acids leading to demyelination, neurodegeneration, and death. Here is the latest research.

Alexander Disease

Alexander disease is a rare neurological disorder caused by mutations in the astrocyte-specific intermediate filament protein glial fibrillary acidic protein (GFAP). Here is the latest research.

Asperger Syndrome

Asperger syndrome (AS), also known as Asperger's, is a developmental disorder characterized by significant difficulties in social interaction and nonverbal communication, along with restricted and repetitive patterns of behavior and interests. Discover the latest research on Asperger syndrome here.


Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research.

Batten Disease

Batten Disease is a group of nervous system disorders known as neuronal ceroid lipfuscinosis. This feed focuses on neurobiological and neuropathological aspects of this disease. Discover more here.

Brain developing: Influences & Outcomes

This feed focuses on influences that affect the developing brain including genetics, fetal development, prenatal care, and gene-environment interactions. Here is the latest research in this field.

Canavan Disease

Canavan disease is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain, and is one of the most common degenerative cerebral diseases of infancy. Discover the latest research on Canavan disease here.

Cerebral Palsy & Spasticity

Spactic cereberal palsy is one of the most common types of cerebral palsy that stems from an upper motor neuron lesion in the brain. Discover the latest research on cerebral palsy and spasticity here.

Congenital Brain Malformations

Congenital brain malformations are a major cause of morbidity and mortality in pediatric patients younger than 2 years. Discover the latest research on congenital brain malformations here.

© 2020 Meta ULC. All rights reserved