Leigh Syndrome

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.

September 3, 2020
Open Access

Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics

International Journal of Cancer. Journal International Du Cancer
Hendrik BläkerGerman Consortium for Familial Intestinal Cancer
September 19, 2020
Open Access

Diet quality and colorectal tumor risk in persons with Lynch syndrome

Cancer Epidemiology
Anouk H EijkelboomFränzel J B van Duijnhoven
August 18, 2020
Open Access

Height and Colorectal and Endometrial Cancer Risk for Persons with Lynch Syndrome

American Journal of Epidemiology
Jesca G M BrouwerFränzel J B van Duijnhoven
August 17, 2020

Beyond Fever, Cough and Dyspnea: The Neurology of COVID-19

The Journal of the Association of Physicians of India
Divyani GargRajinder K Dhamija
August 26, 2020

Structural basis for antibiotic action of the B1 antivitamin 2'-methoxy-thiamine

Nature Chemical Biology
Fabian Rabe von PappenheimKai Tittmann
August 3, 2020
Case Report

Efficacy of perampanel for epileptic seizures and daily behavior in a patient with Leigh syndrome: A case report

Brain & Development
Shuhei KimuraMichihiko Ueno
July 30, 2020
Case Report
Open Access

Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report

Adrián González-QuintanaMiguel A Martín
August 12, 2020

Can inflammatory markers and clinical indices serve as useful referral criteria for leukocyte scan with inflammatory bowel disease?

Nuclear Medicine Review. Central & Eastern Europe
Tihana Klarica GembićDražen Huić
September 11, 2020

High-dose leucine supplementation does not prevent muscle atrophy or strength loss over 7 days of immobilization in healthy young males

The American Journal of Clinical Nutrition
Sophie J EdwardsLeigh Breen
August 11, 2020

Mitochondrial Complex I Mutations Predispose Drosophila to Isoflurane Neurotoxicity

Zachariah P G OlufsMisha Perouansky

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