(Q28116130)

4 January 2017

title

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations (English)

1 reference

Transport and golgi organization 2 homolog

4 January 2017

0 references

1 reference

GOA release 2020-03-11

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1 reference

50

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Eric Boerwinkle

42

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Gustavo Maegawa

38

object named as

Gustavo H. B. Maegawa

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4 January 2017

Brett Graham

43

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Tomasz Gambin

13

object named as

Tomasz Gambin

1 reference

4 January 2017

49

Richard A. Gibbs

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4 January 2017

27

Donna M. Muzny

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4 January 2017

45

Christine M. Eng

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4 January 2017

51

Yaping Yang

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4 January 2017

33

Carlos A. Bacino

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4 January 2017

10

Francesco Vetrini

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4 January 2017

26

Shalini N. Jhangiani

1 reference

4 January 2017

7

Wenmiao Zhu

1 reference

4 January 2017

30

Angus Wilfong

1 reference

4 January 2017

25

Gladys Zapata

1 reference

4 January 2017

34

Fernando Scaglia

1 reference

Zeynep Hande Coban Akdemir

4 January 2017

15

object named as

Zeynep Hande Coban Akdemir

1 reference

4 January 2017

5

Theodore Chiang

1 reference

4 January 2017

12

Marwan Shinawi

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4 January 2017

Seema R. Lalani

1

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4 January 2017

Pengfei Liu

2

1 reference

4 January 2017

Jill A. Rosenfeld

3

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4 January 2017

Levi B. Watkin

4

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4 January 2017

Magalie S. Leduc

6

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4 January 2017

Yan Ding

8

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4 January 2017

Shujuan Pan

9

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4 January 2017

Christina Y. Miyake

11

1 reference

4 January 2017

Mohammad K. Eldomery

14

1 reference

4 January 2017

Lisa Emrick

16

1 reference

4 January 2017

Yael Wilnai

17

1 reference

4 January 2017

Susan Schelley

18

1 reference

4 January 2017

Mary Kay Koenig

19

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4 January 2017

Nada Memon

20

1 reference

4 January 2017

Laura S. Farach

21

1 reference

4 January 2017

Bradley P. Coe

22

1 reference

4 January 2017

Mahshid Azamian

23

1 reference

4 January 2017

Patricia Hernandez

24

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4 January 2017

Timothy Lotze

28

1 reference

4 January 2017

Gary Clark

29

1 reference

4 January 2017

Hope Northrup

31

1 reference

4 January 2017

Adekunle Adesina

32

1 reference

4 January 2017

Penelope E. Bonnen

35

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4 January 2017

Jane Crosson

36

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4 January 2017

Jessica Duis

37

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4 January 2017

David Coman

39

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4 January 2017

Anita Inwood

40

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4 January 2017

Jim McGill

41

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4 January 2017

Art Beaudet

44

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4 January 2017

Neil A. Hanchard

46

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4 January 2017

Fan Xia

47

1 reference

4 January 2017

Jordan S. Orange

48

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4 January 2017

language of work or name

English

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publication date

4 February 2016

1 reference

American Journal of Human Genetics

4 January 2017

published in

1 reference

4 January 2017

volume

98

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4 January 2017

issue

2

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4 January 2017

page(s)

347–357

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TANGO1 facilitates cargo loading at endoplasmic reticulum exit sites

4 January 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Vesicle-mediated export from the ER: COPII coat function and regulation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

A copy number variation morbidity map of developmental delay

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis--The Austrian experience

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Rhabdomyolysis: a genetic perspective.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Refining analyses of copy number variation identifies specific genes associated with developmental delay

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Central precocious puberty caused by mutations in the imprinted gene MKRN3.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Clan genomics and the complex architecture of human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Rhabdomyolysis: historical background, clinical, diagnostic and therapeutic features

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Golgi apparatus and neurodegenerative diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Functional genomics reveals genes involved in protein secretion and Golgi organization

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Serum creatine kinase as predictor of clinical course in rhabdomyolysis: a 5-year intensive care survey

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Fragmentation of the Golgi apparatus of motor neurons in amyotrophic lateral sclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

The investigation and management of metabolic myopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Metabolic causes of myoglobinuria

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Lethal cardiac tachyarrhythmia in a patient with neonatal carnitine-acylcarnitine translocase deficiency

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746334

Rhabdomyolysis and myoglobinuric renal failure in trauma and surgical patients: a review

27 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/26805781

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/26805781

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/26805781