Peripheral neuropathy in Tangier disease: A literature review and assessment

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