Mitochondrial respiratory chain disorders in the Old Order Amish population.

scientific article published on 16 June 2016

Mitochondrial respiratory chain disorders in the Old Order Amish population. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.YMGME.2016.06.005
P698PubMed publication ID27344355

P50authorAl-Walid MohsenQ50419968
P2093author name stringJerry Vockley
D Holmes Morton
Amy Goldstein
Catherine Walsh Vockley
Steven F Dobrowolski
Lina Ghaloul-Gonzalez
Amy Biery
Afifa Irani
Jordan Ibarra
P2860cites workMitochondrial form and functionQ26866448
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Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.Q33636528
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal studyQ34043733
Pediatric medicine and the genetic disorders of the Amish and Mennonite people of PennsylvaniaQ34218263
Genetic heritage of the Old Order Mennonites of southeastern PennsylvaniaQ34218271
Prevalence of mitochondrial DNA disease in adultsQ34691723
Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profilingQ35101814
Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) geneQ35266591
Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutationQ36315256
Pathogenic mitochondrial DNA mutations are common in the general populationQ36808847
The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndromeQ36894187
The role of mitochondria from mature oocyte to viable blastocystQ36899560
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietyQ37210464
Endocrine disorders in mitochondrial disease.Q37286619
Genetics, medicine, and the Plain peopleQ37561095
Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disordersQ38028131
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment optionsQ38533544
Mutations causing mitochondrial disease: What is new and what challenges remain?Q38592664
Base-pair neutral homozygotes can be discriminated by calibrated high-resolution melting of small ampliconsQ39089500
Amish, mennonite, and hutterite genetic disorder databaseQ41973873
Tissue specific distribution of the 3243A->G mtDNA mutation.Q43169874
L-arginine improves the symptoms of strokelike episodes in MELAS.Q45280645
Clinical features of mitochondrial DNA m.3243A>G mutation in 47 Chinese familiesQ48311467
Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profilingQ50445859
Endocrine disorders in two sisters affected by MELAS syndrome.Q51971558
Mitochondrial deoxyribonucleic acid 4977-bp deletion is associated with diminished fertility and motility of human spermQ72309861
Multiple deletions of mitochondrial DNA are associated with the decline of motility and fertility of human spermatozoaQ77080225
Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model systemQ80471025
One community's effort to control genetic diseaseQ84152642
P433issue4
P921main subjectAmishQ104444
P304page(s)296-303
P577publication date2016-06-16
P1433published inMolecular Genetics and MetabolismQ6895949
P1476titleMitochondrial respiratory chain disorders in the Old Order Amish population.
P478volume118

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cites work (P2860)
Q28069775Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases
Q92368876Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways