The Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 Patients

MELAS Syndrome and MIDD Unmasked by Metformin Use: A Case Report

(2020) Na Hyun Kim et al.   ANNALS OF INTERNAL MEDICINE

THE ROLE OF HETEROPLASMY IN THE DIAGNOSIS AND MANAGEMENT OF MATERNALLY INHERITED DIABETES AND DEAFNESS

(2019) Katie Nahay Robinson et al.   Endocrine Practice

Mitochondrial heteroplasmy beyond the oocyte bottleneck

(2019) Jelle van den Ameele et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

(2018) John P Grady et al.   EMBO Molecular Medicine

Corrigendum: Assisted reproductive technologies to prevent human mitochondrial disease transmission

(2018) Andy Greenfield et al.   NATURE BIOTECHNOLOGY

MitoTALEN reduces mutant mtDNA load and restores tRNAAla levels in a mouse model of heteroplasmic mtDNA mutation

(2018) Sandra R. Bacman et al.   NATURE MEDICINE

A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism

(2016) Laura Kytövuori et al.   JOURNAL OF NEUROLOGY

Tetracycline Antibiotics Impair Mitochondrial Function and Its Experimental Use Confounds Research

(2015) Iliana A. Chatzispyrou et al.   CANCER RESEARCH

Statins stimulate atherosclerosis and heart failure: pharmacological mechanisms

(2015) Harumi Okuyama et al.   Expert Review of Clinical Pharmacology

A review of maternally inherited diabetes and deafness

(2014) Hui-Zhen Li   Frontiers in Bioscience-Landmark

Heterogeneous phenotypic manifestations of maternally inherited deafness associated with the mitochondrial A3243G mutation. Case report

(2014) Magdalena Hoptasz et al.   Neurologia i Neurochirurgia Polska

Focal segmental glomerulosclerosis associated with maternally inherited diabetes and deafness: Clinical pathological analysis

(2013) Ri-Bao Wei et al.   Indian Journal of Pathology and Microbiology

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management

(2013) V. Nesbitt et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Monogenic diabetes mellitus due to defects in insulin secretion

(2012) C Henzen   SWISS MEDICAL WEEKLY

Islet cell antibodies in diabetes mellitus associated with a mitochondrial tRNALeu(UUR) gene mutation

(2009) K. Oexle et al.   EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES

The Clinical Variability of Maternally Inherited Diabetes and Deafness Is Associated with the Degree of Heteroplasmy in Blood Leukocytes

(2009) M. Laloi-Michelin et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis

(2008) C. Verny et al.   DIABETES & METABOLISM

Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation

(2008) R. Murphy et al.   DIABETIC MEDICINE

Comparison of mitochondrial A3243G mutation loads in easily accessible samples from a family with maternally inherited diabetes and deafness

(2008) Fukao   Molecular Medicine Reports