Peripheral neuropathy in Tangier disease: A literature review and assessment
Published 2018 View Full Article
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Title
Peripheral neuropathy in Tangier disease: A literature review and assessment
Authors
Keywords
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Journal
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
Volume 23, Issue 2, Pages 88-98
Publisher
Wiley
Online
2018-03-27
DOI
10.1111/jns.12265
References
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Related references
Note: Only part of the references are listed.- Tangier′s disease: An uncommon cause of facial weakness and non-length dependent demyelinating neuropathy
- (2016) ArunB Taly et al. Annals of Indian Academy of Neurology
- A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation
- (2016) Marco Ceccanti et al. Frontiers in Neurology
- 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
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy
- (2015) Huseyin Per et al. NEUROPEDIATRICS
- DANN: a deep learning approach for annotating the pathogenicity of genetic variants
- (2014) Daniel Quang et al. BIOINFORMATICS
- Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease
- (2014) Annalisa Sechi et al. Orphanet Journal of Rare Diseases
- Tangier Disease
- (2013) Mariarita Puntoni et al. American Journal of Cardiovascular Drugs
- Approach to the Patient with Extremely Low HDL-Cholesterol
- (2012) Daniel J. Rader et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease
- (2012) Smita I. Negi et al. Journal of Clinical Lipidology
- Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency
- (2012) Tommaso Fasano et al. MOLECULAR GENETICS AND METABOLISM
- Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease
- (2011) Julie Zyss et al. JOURNAL OF NEUROLOGY
- Neuropathy in Tangier disease: A clinicopathologic study and a review of the literature
- (2010) V. Pietrini et al. ACTA NEUROLOGICA SCANDINAVICA
- Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol
- (2010) C. Candini et al. ATHEROSCLEROSIS
- Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease
- (2010) Letizia Bocchi et al. CLINICA CHIMICA ACTA
- Tangier disease phenotype diversity in dizygous twin sisters
- (2010) P. Pichit et al. REVUE NEUROLOGIQUE
- Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C
- (2009) Jamie Cameron et al. ATHEROSCLEROSIS
- A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency
- (2009) Amanda J. Hooper et al. CLINICA CHIMICA ACTA
- Lewis-Sumner Syndrome and Tangier Disease
- (2008) Marie Théaudin et al. ARCHIVES OF NEUROLOGY
- Abdominal localization of Tangier disease mimicking a pancreatic neoplasm
- (2008) Cosimo Sperti et al. EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY
- SEVERE TANGIER DISEASE WITH A NOVEL ABCA1 GENE MUTATION
- (2008) S. Schippling et al. NEUROLOGY
- POPC/apoA-I discs as a potent lipoprotein modulator in Tangier disease
- (2007) Yoshinari Uehara et al. ATHEROSCLEROSIS
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