Increased frequency of rhabdomyolysis in familial dysautonomia-Reference-Cited by-同舟云学术

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Increased frequency of rhabdomyolysis in familial dysautonomia

Published:2015-08-13 Issue:5 Volume:52 Page:887-890
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Palma Jose-alberto¹,Roda Ricardo²,Norcliffe-kaufmann Lucy¹,Kaufmann Horacio¹

Affiliation:

1. Dysautonomia Center, Department of Neurology; New York University School of Medicine; 530 First Avenue, Suite 9Q New York New York 10016 USA

2. Neuromuscular Division, Department of Neurology; New York University School of Medicine; New York New York USA

Funder

Dysautonomia Foundation and the National Institutes of Health

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.24781/fullpdf

Reference17 articles.

1. Central autonomic dysfunction with defective lacrimation; report of five cases;Riley;Pediatrics,1949

2. Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis;Blumenfeld;Nat Genet,1993

3. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia;Slaugenhaupt;Am J Hum Genet,2001

4. Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia?;Mezey;Brain Res,2003

5. Familial dysautonomia (Riley-Day syndrome): when baroreceptor feedback fails;Norcliffe-Kaufmann;Auton Neurosci,2012

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1. A Comprehensive NMR Analysis of Serum and Fecal Metabolites in Familial Dysautonomia Patients Reveals Significant Metabolic Perturbations;Metabolites;2023-03-16

2. The Complex Clinical and Genetic Landscape of Hereditary Peripheral Neuropathy;Annual Review of Pathology: Mechanisms of Disease;2021-01-24

3. Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia;Clinical Neurophysiology;2018-02

4. Animal and cellular models of familial dysautonomia;Clinical Autonomic Research;2017-06-30

5. Familial dysautonomia: History, genotype, phenotype and translational research;Progress in Neurobiology;2017-05

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