(Q36994298)

17 August 2017

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title

The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies (English)

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17 August 2017

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Berish Y Rubin

1

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PubMed ID

17985250

17 August 2017

Sylvia L Anderson

series ordinal

2

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PubMed ID

17985250

17 August 2017

language of work or name

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6 November 2007

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17 August 2017

NeuroMolecular Medicine

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17 August 2017

10

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17 August 2017

148-156

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17 August 2017

3

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https://scigraph.springernature.com/pub.10.1007/s12017-007-8019-5

17 August 2017

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cites work

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

1 reference

12 December 2020

Pattern of plasma levels of catecholamines in familial dysautonomia

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12 December 2020

Elevated levels of two tRNA species bypass the requirement for elongator complex in transcription and exocytosis.

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12 December 2020

Vibratory response in idiopathic scoliosis

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12 December 2020

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

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12 December 2020

Progressive sensory loss in familial dysautonomia

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12 December 2020

Orthopaedic defects in familial dysautonomia. A review of sixty-five cases

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12 December 2020

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

1 reference

12 December 2020

RESPONSE TO INTRADERMAL HISTAMINE IN FAMILIAL DYSAUTONOMIA--A DIAGNOSTIC TEST

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12 December 2020

Glycogen storage disease type Ib without neutropenia.

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

EXAGGERATED RESPONSE TO INFUSED NOREPINEPHRINE IN FAMILIAL DYSAUTONOMIA

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12 December 2020

Can the therapeutic efficacy of tocotrienols in neurodegenerative familial dysautonomia patients be measured clinically?

1 reference

12 December 2020

Scintigraphic evaluation of esophageal transit and gastric emptying in familial dysautonomia

1 reference

12 December 2020

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

1 reference

12 December 2020

Incidence of familial dysautonomia in Israel 1977-1981

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12 December 2020

Some puzzling pharmacological effects of monoamine oxidase inhibitors

1 reference

12 December 2020

Proprioceptive function in children with adolescent idiopathic scoliosis

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12 December 2020

Cold face test demonstrates parasympathetic cardiac dysfunction in familial dysautonomia

1 reference

12 December 2020

Altered drug response in familial dysautonomia

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12 December 2020

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

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12 December 2020

EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia

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12 December 2020

Dietary consideration in MAO inhibitor regimens

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12 December 2020

Patient compliance with MAO inhibitor therapy

1 reference

12 December 2020

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

1 reference

12 December 2020

Trophic functions of the neuron. V. Familial dysautonomia. Familial dysautonomia: clinical and pathophysiological aspects

1 reference

12 December 2020

Respiratory aspects of Riley-Day Syndrome: familial dysautonomia

1 reference

12 December 2020

Familial dysautonomia. A report of genetic and clinical studies, with a review of the literature

1 reference

12 December 2020

Contrasting monoamine oxidase activity and tyramine induced catecholamine release in PC12 and chromaffin cells

1 reference

12 December 2020

Orthostatic challenge reveals impaired vascular resistance control, but normal venous pooling and capillary filtration in familial dysautonomia

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12 December 2020

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

1 reference

12 December 2020

Familial dysautonomia is caused by mutations of the IKAP gene

1 reference

12 December 2020

IKAP is a scaffold protein of the IkappaB kinase complex

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12 December 2020

The involvement of intestinal monoamine oxidase in the transport and metabolism of tyramine

1 reference

12 December 2020

Monoamine oxidase inhibitor update. Potential adverse food and drug interactions

1 reference

12 December 2020

Monoamine oxidase inhibitors and the cheese effect

1 reference

12 December 2020

Elongator complex: how many roles does it play?

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12 December 2020

Some observations upon a new inhibitor of monoamine oxidase in brain tissue.

1 reference

12 December 2020

Familial dysautonomia: update and recent advances

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12 December 2020

HYPERTENSIVE CRISIS ASSOCIATED WITH MONOAMINE-OXIDASE INHIBITORS

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12 December 2020

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

1 reference

12 December 2020

HYPERTENSIVE CRISIS DUE TO MONOAMINE-OXIDASE INHIBITORS

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12 December 2020

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

1 reference

12 December 2020

Catecholamine Release in Familial Dysautonomia

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12 December 2020

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

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12 December 2020

Epidural anaesthesia and familial dysautonomia (the Riley Day syndrome). Three case reports.

1 reference

12 December 2020

Use of MAOI antidepressants

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12 December 2020

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

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

Monoamine oxidase inhibitors: a review

1 reference

12 December 2020

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

1 reference

12 December 2020

Quantitative studies of ciliary and sphenopalatine ganglia in familial dysautonomia

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

A second leaky splice-site mutation in the spastin gene

1 reference

12 December 2020

Abnormalities of the corrected QT interval in familial dysautonomia: an indicator of autonomic dysfunction

1 reference

12 December 2020

OCULAR RESPONSES TO AUTONOMIC DRUGS IN FAMILIAL DYSAUTONOMIA.

1 reference

12 December 2020

RESPONSES TO INFUSED METHACHOLINE IN FAMILIAL DYSAUTONOMIA

1 reference

12 December 2020

Elongator is a histone H3 and H4 acetyltransferase important for normal histone acetylation levels in vivo

1 reference

12 December 2020

Glycogen Storage Disease Type II: Identification of Four Novel Missense Mutations (D645N, G648S, R672W, R672Q) and Two Insertions/Deletions in the Acid α-Glucosidase Locus of Patients of Differing Phenotype

1 reference

12 December 2020

Elp1p, the yeast homolog of the FD disease syndrome protein, negatively regulates exocytosis independently of transcriptional elongation

1 reference

12 December 2020

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

1 reference

12 December 2020

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin

1 reference

12 December 2020

Ictal SPECT during autonomic crisis in familial dysautonomia

1 reference

12 December 2020

Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II

1 reference

12 December 2020

Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.

1 reference

12 December 2020

The effect of monoamine oxidase inhibitors on 'first-pass' metabolism of tyramine in dog intestine

1 reference

12 December 2020

Spine deformity in familial dysautonomia (Riley-Day syndrome)

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12 December 2020

Familial dysautonomia

1 reference

12 December 2020

Abnormal catechol amine metabolism in familial dysautonomia

1 reference

12 December 2020

Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs

1 reference

12 December 2020

The Sural Nerve in Familial Dysautonomia

1 reference

12 December 2020

ABSENCE OF TASTE-BUD PAPILLAE IN FAMILIAL DYSAUTONOMIA

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12 December 2020

Tocotrienols reverse IKAP and monoamine oxidase deficiencies in familial dysautonomia

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12 December 2020

Identification of the first non-Jewish mutation in familial Dysautonomia

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12 December 2020

Respiratory and cerebrovascular responses to hypoxia and hypercapnia in familial dysautonomia

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12 December 2020

Familial dysautonomia. A cineradiographic study of the swallowing mechanism

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12 December 2020

Purification and characterization of the human elongator complex

1 reference

12 December 2020

Fundoplication and gastrostomy in familial dysautonomia

1 reference

12 December 2020

Esophageal and gastric abnormalities in dysautonomia

1 reference

12 December 2020

Excretion of catecholamine metabolites by children with familial dysautonomia

1 reference

12 December 2020

Assessing efficacy of high-frequency chest wall oscillation in patients with familial dysautonomia.

1 reference

12 December 2020

Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia

1 reference

12 December 2020

MONOAMINE OXIDASE INHIBITORS, TYRAMINE, AND CHESSE

1 reference

12 December 2020

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

1 reference

12 December 2020

Decreased density of ganglia and neurons in the myenteric plexus of familial dysautonomia patients

1 reference

12 December 2020

10.1007/S12017-007-8019-5

Identifiers

DOI

1 reference

17 August 2017

1 reference

PubMed ID

17985250