(Q37450512)

20 August 2017

1 reference

title

Familial Dysautonomia: Mechanisms and Models (English)

1 reference

20 August 2017

1 reference

Paula Dietrich

1

1 reference

20 August 2017

Ioannis Dragatsis

series ordinal

2

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20 August 2017

language of work or name

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4 August 2016

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Genetics and Molecular Biology

20 August 2017

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20 August 2017

39

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20 August 2017

4

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20 August 2017

497-514

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Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP Downregulation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Dimerization of elongator protein 1 is essential for Elongator complex assembly

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Building the Neuronal Microtubule Cytoskeleton

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Involvement of IKAP in peripheral target innervation and in specific JNK and NGF signaling in developing PNS neurons

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

IKAP deficiency in an FD mouse model and in oligodendrocyte precursor cells results in downregulation of genes involved in oligodendrocyte differentiation and myelin formation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Neural crest and placode interaction during the development of the cranial sensory system

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Ikbkap/Elp1 deficiency causes male infertility by disrupting meiotic progression

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Relationship between proprioception at the knee joint and gait ataxia in HSAN III.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Mechanisms of disease in hereditary sensory and autonomic neuropathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Can loss of muscle spindle afferents explain the ataxic gait in Riley-Day syndrome?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Specific correction of a splice defect in brain by nutritional supplementation.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells: implications for familial dysautonomia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Olfactory stem cells, a new cellular model for studying molecular mechanisms underlying familial dysautonomia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Afferent baroreflex failure in familial dysautonomia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

A role for the elongator complex in zygotic paternal genome demethylation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

The elongator complex interacts with PCNA and modulates transcriptional silencing and sensitivity to DNA damage agents.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Cardiac sympathetic hypo-innervation in familial dysautonomia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Familial dysautonomia: update and recent advances

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

A world without pain or tears

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

23 August 2017

Familial dysautonomia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

A NEUROPATHOLOGICAL STUDY OF FAMILIAL DYSAUTONOMIA (RILEY-DAY SYNDROME) IN SIBLINGS

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Identification of the first non-Jewish mutation in familial Dysautonomia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Purification and characterization of the human elongator complex

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Nonspinal orthopaedic problems in familial dysautonomia (Riley-Day syndrome).

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Familial dysautonomia is caused by mutations of the IKAP gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Orthopaedic manifestations of familial dysautonomia. A review of one hundred and thirty-six patients.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Neurotrophins: more to NGF than just survival

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Cold face test demonstrates parasympathetic cardiac dysfunction in familial dysautonomia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

IKAP is a scaffold protein of the IkappaB kinase complex

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Aspects of spinal deformity in familial dysautonomia (Riley-Day syndrome)

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Expression of the beta-nerve growth factor gene correlates with the density of sympathetic innervation in effector organs

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Altered nerve growth factor in fibroblasts from patients with familial dysautonomia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Elongator, a conserved complex required for wobble uridine modifications in eukaryotes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

From genes to pain: nerve growth factor and hereditary sensory and autonomic neuropathy type V.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Neurobiology of pain, interoception and emotional response: lessons from nerve growth factor-dependent neurons

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Structural insights into Elongator function

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Tyrosine Hydroxylase Immunoreactivity in Familial Dysautonomia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Ophthalmologic studies of familial dysautonomia. The Riley-Day syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Optic atrophy in familial dysautonomia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Familial dysautonomia (Riley-Day syndrome). Temporal bone findings and otolaryngological manifestations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

A Dynamic Unfolded Protein Response Contributes to the Control of Cortical Neurogenesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

The I kappa B kinase (IKK) complex is tripartite and contains IKK gamma but not IKAP as a regular component.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Spinal Cord Changes in Familial Dysautonomia

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Intrauterine Growth Retardation in Familial Dysautonomia

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Neuropathologic findings in patients of a hospital for the mentally deficient. A survey of 359 cases.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Reduced neuronotrophic activity of fibroblasts from individuals with dysautonomia in cultures of newborn mouse sensory ganglion cells.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Brainstem auditory evoked potentials in familial dysautonomia.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

The Sural Nerve in Familial Dysautonomia

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Quantitative studies of ciliary and sphenopalatine ganglia in familial dysautonomia

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Intellectual development and familial dysautonomia

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Evidence of brainstem dysfunction in patients with familial dysautonomia and carriers of the IKBKAP mutation.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Brainstem reflexes in patients with familial dysautonomia.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Selective retinal ganglion cell loss in familial dysautonomia.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Dynamic changes in IKBKAP mRNA levels during crisis of familial dysautonomia patients.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Clinical neuro-ophthalmic findings in familial dysautonomia.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Neuroimaging supports central pathology in familial dysautonomia.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Tocotrienols reverse IKAP and monoamine oxidase deficiencies in familial dysautonomia

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Sympathetic and parasympathetic baroreflex dysfunction in familial dysautonomia.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia?

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Survival in familial dysautonomia: Impact of early intervention.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Genomic organization and chromosomal localization of the mouse IKBKAP gene

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Embryonic sensory development: local expression of neurotrophin-3 and target expression of nerve growth factor.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127153

Elongator – an emerging role in neurological disorders

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1590%2F1678-4685-GMB-2015-0335

Elongator, a Multisubunit Component of a Novel RNA Polymerase II Holoenzyme for Transcriptional Elongation

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1590%2F1678-4685-GMB-2015-0335

Timing and site of nerve growth factor synthesis in developing skin in relation to innervation and expression of the receptor

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1590%2F1678-4685-GMB-2015-0335

Hereditary sensory and autonomic neuropathy type 3 in non-Jewish child

21 January 2018

1 reference

12 December 2020

Bone mineral density and metabolism in familial dysautonomia

1 reference

12 December 2020

Progressive sensory loss in familial dysautonomia

1 reference

12 December 2020

Familial dysautonomia differentiated from related disorders. Case reports and discussions of current concepts

1 reference

12 December 2020

Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews

1 reference

12 December 2020

Optic neuropathy in familial dysautonomia

1 reference

12 December 2020

Chasing a disease to the vanishing point

1 reference

12 December 2020

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

1 reference

12 December 2020

Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia

1 reference

12 December 2020

IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration

1 reference

12 December 2020

Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia

1 reference

12 December 2020

FAMILIAL DYSAUTONOMIA (RILEY-DAY SYNDROME). CASE REPORT WITH POSTMORTEM FINDINGS OF A PATIENT AT AGE 31

1 reference

12 December 2020

The tongue and taste in familial dysautonomia

1 reference

12 December 2020

Familial dysautonomia; case report with autopsy

1 reference

12 December 2020

Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia

1 reference

12 December 2020

A cephalometric evaluation of craniofacial morphology in familial dysautonomia

1 reference

12 December 2020

PERIPHERAL AUTONOMIC NERVOUS SYSTEM LESIONS IN CONGENITAL OR FAMILIAL DYSAUTONOMIA. RILEY-DAY SYNDROME

1 reference

12 December 2020

Familial dysautonomia in a non-Jewish girl, with histological evidence of progression in the sural nerve

1 reference

12 December 2020

Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews

1 reference

12 December 2020

Submandibular and sublingual salivary gland function in familial dysautonomia

1 reference

12 December 2020

Increased nerve-growth-factor beta-chain cross-reacting material in familial dysautonomia

1 reference

12 December 2020

Abnormal catechol amine metabolism in familial dysautonomia

1 reference

12 December 2020

Familial dysautonomia. A cineradiographic study of the swallowing mechanism

1 reference

12 December 2020

Respiratory and cardiovascular indicators of autonomic nervous system dysregulation in familial dysautonomia

1 reference

12 December 2020

10.1590/1678-4685-GMB-2015-0335

Identifiers

DOI

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

27561110

1 reference