(Q51501560)

6 April 2018

title

Mitochondrial respiratory chain disorders in the Old Order Amish population. (English)

1 reference

6 April 2018

0 references

9

1 reference

6 April 2018

author name string

Lina Ghaloul-Gonzalez

1

1 reference

6 April 2018

Amy Goldstein

2

1 reference

6 April 2018

Catherine Walsh Vockley

3

1 reference

6 April 2018

Steven F Dobrowolski

4

1 reference

6 April 2018

Amy Biery

5

1 reference

6 April 2018

Afifa Irani

6

1 reference

6 April 2018

Jordan Ibarra

7

1 reference

6 April 2018

D Holmes Morton

8

1 reference

6 April 2018

Jerry Vockley

10

1 reference

6 April 2018

publication date

16 June 2016

1 reference

6 April 2018

Molecular Genetics and Metabolism

published in

1 reference

6 April 2018

volume

118

1 reference

6 April 2018

issue

4

1 reference

6 April 2018

page(s)

296-303

1 reference

6 April 2018

Mitochondrial form and function

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Mutations causing mitochondrial disease: What is new and what challenges remain?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Prevalence of mitochondrial DNA disease in adults

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Genetics, medicine, and the Plain people

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

One community's effort to control genetic disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Amish, mennonite, and hutterite genetic disorder database

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Base-pair neutral homozygotes can be discriminated by calibrated high-resolution melting of small amplicons

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Tissue specific distribution of the 3243A->G mtDNA mutation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Clinical features of mitochondrial DNA m.3243A>G mutation in 47 Chinese families.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Endocrine disorders in mitochondrial disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Endocrine disorders in two sisters affected by MELAS syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

The role of mitochondria from mature oocyte to viable blastocyst

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Pathogenic mitochondrial DNA mutations are common in the general population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Mitochondrial deoxyribonucleic acid 4977-bp deletion is associated with diminished fertility and motility of human sperm

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Multiple deletions of mitochondrial DNA are associated with the decline of motility and fertility of human spermatozoa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

MELAS and L-arginine therapy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

L-arginine improves the symptoms of strokelike episodes in MELAS.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.06.005

10.1016/J.YMGME.2016.06.005

7 January 2021

Identifiers

DOI

1 reference

6 April 2018

PubMed ID

27344355

1 reference

6 April 2018