(Q21202965)

Dimensions Publication ID

Dimensions

1018391888

18 August 2022

Gabrielle Gold-von Simson

series ordinal

2

author given names

Gabrielle

author last names

Gold-von Simson

1 reference

Dimensions Publication ID

Dimensions

1018391888

Orphanet Journal of Rare Diseases

18 August 2022

language of work or name

English

0 references

publication date

3 October 2007

2 references

22 April 2019

25 April 2019

2 references

22 April 2019

25 April 2019

2

0 references

issue

1

0 references

page(s)

39

0 references

copyright license

Creative Commons Attribution 2.0 Generic

2 references

Europe PubMed Central

22 April 2019

Europe PubMed Central

on focus list of Wikimedia project

25 April 2019

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

Familial dysautonomia is caused by mutations of the IKAP gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

19 March 2017

Familial dysautonomia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Identification of the first non-Jewish mutation in familial Dysautonomia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Central autonomic dysfunction with defective lacrimation; report of five cases.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Fludrocortisone in patients with familial dysautonomia--assessing effect on clinical parameters and gene expression.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Familial dysautonomia: a review of the current pharmacological treatments

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Pacemakers in patients with familial dysautonomia--a review of experience with 20 patients

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Respiratory and cerebrovascular responses to hypoxia and hypercapnia in familial dysautonomia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Dermal microdialysis provides evidence for hypersensitivity to noradrenaline in patients with familial dysautonomia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Assessment and evaluation of hereditary sensory and autonomic neuropathies with autonomic and neurophysiological examinations

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

The effects of abnormal sympathetic nervous function upon the ventilatory response to hypoxia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Congenital sensory neuropathy

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Autonomic involvement in inherited neuropathies

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV)

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Renal disease in familial dysautonomia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Respiratory system stability and abnormal carbon dioxide homeostasis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Confirmation of Virtual Unmyelinated Fiber Absence in Hereditary Sensory Neuropathy Type IV

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Congenital sensory neuropathy with anhidrosis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

The Sural Nerve in Familial Dysautonomia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Pregnancy in familial dysautonomia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Intellectual development and familial dysautonomia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Assessing function and pathology in familial dysautonomia: assessment of temperature perception, sweating and cutaneous innervation

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Survival in familial dysautonomia: Impact of early intervention.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Cloning, characterization, and genomic structure of the mouse Ikbkap gene.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Sympathetic skin response differentiates hereditary sensory autonomic neuropathies III and IV.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2098750

Preliminary observations on the use of midodrine in treating orthostatic hypotension in familial dysautonomia

29 November 2018

1 reference

12 December 2020

Pattern of plasma levels of catecholamines in familial dysautonomia

1 reference

12 December 2020

Congenital insensitivity to pain with anhidrosis: lack of eccrine sweat gland innervation confirmed

1 reference

12 December 2020

RESPIRATORY CONTROL IN FAMILIAL DYSAUTONOMIA

1 reference

12 December 2020

RESPONSES TO INFUSED METHACHOLINE IN FAMILIAL DYSAUTONOMIA

1 reference

12 December 2020

Prevalence and severity of renal disease in familial dysautonomia

1 reference

12 December 2020

Ictal SPECT during autonomic crisis in familial dysautonomia

1 reference

12 December 2020

Absent innervation of skin and sweat glands in congenital insensitivity to pain with anhidrosis

1 reference

12 December 2020

Quantitative sensory testing of thermal and vibratory perception in familial dysautonomia

1 reference

12 December 2020

Spinal deformity in familial dysautonomia. Prevalence, and results of bracing

1 reference

12 December 2020

Congenital insensitivity to pain with anhidrosis: an NGF/TrkA-related disorder

1 reference

12 December 2020

Extensive Riga-Fede disease of the lip and tongue

1 reference

12 December 2020

Congenital familial sensory neuropathy with anhidrosis

1 reference

12 December 2020

Peripheral nerve abnormalities in the Riley-Day syndrome. Findings in a sural nerve biopsy

1 reference

12 December 2020

Trophic functions of the neuron. V. Familial dysautonomis. Current concepts of dysautonomia: neuropathological defects

1 reference

12 December 2020

Deficient Sympathetic Nervous Response in Familial Dysautonomia

1 reference

12 December 2020

Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia

1 reference

12 December 2020

Personality development and familial dysautonomia

1 reference

12 December 2020

Progressive sensory loss in familial dysautonomia

1 reference

12 December 2020

Eccrine sweat glands are not innervated in hereditary sensory neuropathy type IV. An electron-microscopic study

1 reference

12 December 2020

Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia

1 reference

12 December 2020

Incidence of familial dysautonomia in Israel 1977-1981

1 reference

12 December 2020

Serrated W/M osteotomy. Results using a new technique for the correction of infantile tibia vara

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-2-39

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1186/1750-1172-2-39

0 references

Dimensions Publication ID

1018391888

0 references

Fatcat ID

release_b5avajegh5doxbmte7fp2hga5a

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/b5avajegh5doxbmte7fp2hga5a

24 November 2022