(Q48275810)

10 February 2018

title

Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features (English)

1 reference

10 February 2018

mitochondrial neurogastrointestinal encephalomyopathy

1 reference

1 reference

3

1 reference

10 February 2018

author name string

W M M Schüpbach

1

1 reference

10 February 2018

K Madhavi Vadday

2

1 reference

10 February 2018

C Brekenfeld

4

1 reference

10 February 2018

L Kappeler

5

1 reference

10 February 2018

J F Benoist

6

1 reference

10 February 2018

C Nguyen-Thi Xuan-Huong

7

1 reference

10 February 2018

J M Burgunder

8

1 reference

10 February 2018

F Seibold

9

1 reference

10 February 2018

S Gallati

10

1 reference

10 February 2018

H P Mattle

11

1 reference

10 February 2018

publication date

9 February 2007

1 reference

10 February 2018

published in

Journal of Neurology

1 reference

10 February 2018

volume

254

1 reference

10 February 2018

issue

2

1 reference

10 February 2018

page(s)

146-153

1 reference

10 February 2018

Familial progressive neuronal disease and chronic idiopathic intestinal pseudo-obstruction.

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00415-006-0255-3

Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-006-0255-3

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-006-0255-3

MNGIE: diarrhea and leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-006-0255-3

Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-006-0255-3

Phenotypic variability in a Spanish family with MNGIE.

21 January 2018

1 reference

12 December 2020

Thymidine phosphorylase mutations cause instability of mitochondrial DNA.

1 reference

12 December 2020

Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.

1 reference

12 December 2020

Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 12-1990. A 21-year-old man with progressive gastrointestinal stasis, hepatomegaly, and a neurologic disorder

1 reference

12 December 2020

A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.

1 reference

12 December 2020

Oculogastrointestinal muscular dystrophy

1 reference

12 December 2020

Versatile frequency domain fitting using time domain models and prior knowledge.

1 reference

12 December 2020

Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction: POLIP syndrome

1 reference

12 December 2020

Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE.

1 reference

12 December 2020

Diagnosis and management of MNGIE syndrome in children: case report and review of the literature

1 reference

12 December 2020

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

12 December 2020

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes

1 reference

12 December 2020

[MNGIE syndrome in 2 siblings]

1 reference

12 December 2020

Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.

1 reference

12 December 2020

Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays

1 reference

12 December 2020

Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency

1 reference

12 December 2020

[Digestive tract disorders revealing mitochondrial cytopathy: MNGIE syndrome]

1 reference

12 December 2020

Trigeminal neuralgia in a patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

1 reference

12 December 2020

Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome

1 reference

12 December 2020

In vivo 1H MRS choline: correlation with in vitro chemistry/histology

1 reference

12 December 2020

MR image segmentation and tissue metabolite contrast in 1H spectroscopic imaging of normal and aging brain

1 reference

12 December 2020

Ophthalmic involvement in myo-neuro-gastrointestinal encephalopathy syndrome

1 reference

12 December 2020

Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations

1 reference

12 December 2020

Familial intestinal pseudoobstruction dominated by a progressive neurologic disease at a young age.

1 reference

12 December 2020

Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE).

1 reference

12 December 2020

Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder

1 reference

12 December 2020

Immunocytochemical localization of N-acetyl-aspartate with monoclonal antibodies

1 reference

12 December 2020

Familial visceral myopathy associated with a mitochondrial myopathy

1 reference

12 December 2020

MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating polyneuropathy

1 reference

12 December 2020

Mitochondrial neurogastrointestinal encephalomyopathy: manometric and diagnostic features

1 reference

12 December 2020

Mitochondrial deoxynucleotide pools in quiescent fibroblasts: a possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

1 reference

12 December 2020

MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation

1 reference

12 December 2020

Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses

1 reference

12 December 2020

Chronic intestinal pseudoobstruction and ophthalmoplegia in a patient with mitochondrial myopathy

1 reference

12 December 2020

Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.

1 reference

12 December 2020

Congenital oculoskeletal myopathy with abnormal muscle and liver mitochondria

1 reference

12 December 2020

Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name

1 reference

12 December 2020

In vivo spectroscopic quantification of the N-acetyl moiety, creatine, and choline from large volumes of brain gray and white matter: effects of normal aging

1 reference

12 December 2020

Mitochondrial neurogastrointestinal encephalomyopathy presenting with protein-losing gastroenteropathy and serum copper deficiency: a case report

1 reference

12 December 2020

Altered thymidine metabolism due to defects of thymidine phosphorylase

1 reference

12 December 2020

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

1 reference

12 December 2020

10.1007/S00415-006-0255-3

Identifiers

DOI

1 reference

10 February 2018

1 reference

10 February 2018