Purpose: Assessment of ocular involvement in transthyretin-related familial amyloidosis with polyneuropathy (FAP) in a large cohort of Portuguese patients. Methods: We reviewed the medical records of 513 Portuguese FAP mutation carriers, at th
The Author(s) 2014. This article is published with open access at Springerlink.com Abstract Oculolep...
International audienceBACKGROUND AND PURPOSE:The aim is to describe an uncommon phenotype of heredit...
© 2015 The Authors. Journal of the Peripheral Nervous System published by Wiley Periodicals, Inc. on...
mutation.Giessen, GermanyFull list of author information is available at the end of the articlefiber...
mutation.Giessen, GermanyFull list of author information is available at the end of the articlefiber...
Background. Portuguese type familial amyloid poly-neuropathy (FAP) is a neuropathic amyloidosis caus...
Familial amyloid polyneuropathy (FAP) caused by a mutation in transthyretin (TTR) gene is an autosom...
Background: Transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) is a rare, hereditary...
Background. Alport syndrome is an inherited disease resulting in kidney failure, hearing loss and oc...
Background. Alport syndrome is an inherited disease resulting in kidney failure, hearing loss and oc...
Introduction: Transthyretin (ATTR) amyloidosis is a severe rare disease with wide range of character...
International audienceTransthyretin amyloidosis is a progressive and eventually fatal disease primar...
Familial transthyretin-related amyloid polyneuropathy in a Malaysian patient of ethnic Chinese desce...
© 2016 The Authors Muscle & Nerve Published by Wiley Periodicals, Inc. This is an open access articl...
Purpose of review These recommendations highlight recent experience in genetic counselling for the s...
The Author(s) 2014. This article is published with open access at Springerlink.com Abstract Oculolep...
International audienceBACKGROUND AND PURPOSE:The aim is to describe an uncommon phenotype of heredit...
© 2015 The Authors. Journal of the Peripheral Nervous System published by Wiley Periodicals, Inc. on...
mutation.Giessen, GermanyFull list of author information is available at the end of the articlefiber...
mutation.Giessen, GermanyFull list of author information is available at the end of the articlefiber...
Background. Portuguese type familial amyloid poly-neuropathy (FAP) is a neuropathic amyloidosis caus...
Familial amyloid polyneuropathy (FAP) caused by a mutation in transthyretin (TTR) gene is an autosom...
Background: Transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) is a rare, hereditary...
Background. Alport syndrome is an inherited disease resulting in kidney failure, hearing loss and oc...
Background. Alport syndrome is an inherited disease resulting in kidney failure, hearing loss and oc...
Introduction: Transthyretin (ATTR) amyloidosis is a severe rare disease with wide range of character...
International audienceTransthyretin amyloidosis is a progressive and eventually fatal disease primar...
Familial transthyretin-related amyloid polyneuropathy in a Malaysian patient of ethnic Chinese desce...
© 2016 The Authors Muscle & Nerve Published by Wiley Periodicals, Inc. This is an open access articl...
Purpose of review These recommendations highlight recent experience in genetic counselling for the s...
The Author(s) 2014. This article is published with open access at Springerlink.com Abstract Oculolep...
International audienceBACKGROUND AND PURPOSE:The aim is to describe an uncommon phenotype of heredit...
© 2015 The Authors. Journal of the Peripheral Nervous System published by Wiley Periodicals, Inc. on...