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Amyloid Neuropathies, Familial

Known as: Hereditary Neuropathic Amyloidoses, Polyneuropathies, Familial Amyloid, Amyloid Neuropathy, Familial 
Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on… 
National Institutes of Health

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15 relations

Narrower (5)

AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATEDAmyloid Polyneuropathy, British Type (disorder)Familial Amyloid Neuropathy, Portuguese TypeFamilial Amyloid Polyneuropathy, Appalachian Type

Broader (2)

AmyloidosisAmyloidosis, Hereditary
In BloodMicrobiologicalNervous system structurePeripheral Nerves

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2019
Highly Cited
2019
Familial amyloid polyneuropathy
Highly Cited
2015
Highly Cited
2015
Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study
BackgroundTransthyretin-mediated amyloidosis is an inherited, progressively debilitating disease caused by mutations in the… 
Highly Cited
2012
Highly Cited
2012
Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas
Objective The objective of this study was to elucidate the natural history of late-onset transthyretin Val30Met-associated… 
Highly Cited
2011
Highly Cited
2011
Targeting adenosine monophosphate-activated protein kinase (AMPK) in preclinical models reveals a potential mechanism for the treatment of neuropathic pain
Neuropathic pain is a debilitating clinical condition with few efficacious treatments, warranting development of novel… 
Review
2007
Review
2007
The molecular biology and clinical features of amyloid neuropathy
Neuropathy is often a major manifestation of systemic amyloidosis. It is most frequently seen in patients with hereditary… 
Review
2007
Review
2007
Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP)
Transthyretin familial amyloid polyneuropathies (TTR-FAPs) are autosomal dominant neuropathies of fatal outcome within 10 years… 
Highly Cited
2007
Highly Cited
2007
Clinical variability in type I familial amyloid polyneuropathy (Val30Met): Comparison between late‐ and early‐onset cases in Portugal
We compared early‐ with late‐onset cases in 86 patients with familial amyloidotic polyneuropathy type I (FAP). Among these… 
Review
2002
Review
2002
Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form.
BACKGROUND Type I (transthyretin Met30) familial amyloid polyneuropathy (FAP TTR Met30) occurs in 2 endemic foci in Japan. We… 
Highly Cited
1998
Highly Cited
1998
Living related liver transplantation in adults.
OBJECTIVE To evaluate the outcome of living related liver transplantation (LRLT) in adult patients and to assess graft size… 
Highly Cited
1998
Highly Cited
1998
Characterization of the transthyretin acid denaturation pathways by analytical ultracentrifugation: implications for wild-type, V30M, and L55P amyloid fibril formation.
Analytical ultracentrifugation methods were utilized to further characterize the acid denaturation pathways of wild-type, V30M… 
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