CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings (Q46483795)

http://europepmc.org/abstract/MED/25091367

22 December 2017

title

CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings (English)

1 reference

http://europepmc.org/abstract/MED/25091367

22 December 2017

main subject

transthyretin amyloidosis

1 reference

4

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1 June 2020

Hugo Osório

6

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1 June 2020

Luís Maia

1

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1 June 2020

Rui Magalhães

2

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1 June 2020

Manuel Melo Pires

5

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Helena Pessegueiro Miranda

1 June 2020

8

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1 June 2020

author name string

Joel Freitas

3

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1 June 2020

Daniel Dias

7

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1 June 2020

Manuel Correia

9

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1 June 2020

Teresa Coelho

10

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1 June 2020

language of work or name

English

0 references

publication date

4 August 2014

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http://europepmc.org/abstract/MED/25091367

22 December 2017

published in

Journal of Neurology, Neurosurgery and Psychiatry

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25091367%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

86

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1 June 2020

issue

2

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page(s)

159-167

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The hereditary amyloidoses

1 June 2020

cites work

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Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene.

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Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.

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Familial leptomeningeal amyloidosis with a transthyretin variant Asp18Gly representing repeated subarachnoid haemorrhages with superficial siderosis

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A new Thr49Pro transthyretin gene mutation associated with leptomeningeal amyloidosis

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Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis.

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Progression of cardiomyopathy after liver transplantation in patients with familial amyloidotic polyneuropathy, Portuguese type.

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A different amyloid formation mechanism: de novo oculoleptomeningeal amyloid deposits after liver transplantation

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Liver transplantation in transthyretin-related familial amyloid polyneuropathy

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Transient ischemic attacks in rural and urban northern Portugal: incidence and short-term prognosis.

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Spectrum of transient focal neurological episodes in cerebral amyloid angiopathy: multicentre magnetic resonance imaging cohort study and meta-analysis

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Biochemical characteristics of variant transthyretins causing hereditary leptomeningeal amyloidosis

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Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa do Varzim and Vila do Conde (north of Portugal).

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A novel amyloidogenic transthyretin variant, Gly53Ala, associated with intermittent headaches and ataxia

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Baseline silent cerebral infarction in the Asymptomatic Carotid Atherosclerosis Study.

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Transient neurologic symptoms related to cerebral amyloid angiopathy: usefulness of T2*-weighted imaging.

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Crescendo transient Aura attacks: a transient ischemic attack mimic caused by focal subarachnoid hemorrhage.

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Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu).

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Transthyretin amyloidosis: a new mutation associated with dementia

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Sporadic cerebral amyloid angiopathy revisited: recent insights into pathophysiology and clinical spectrum

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Amyloid "spells" trouble.

21 January 2018

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Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies

21 January 2018

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Prefibrillar transthyretin oligomers and cold stored native tetrameric transthyretin are cytotoxic in cell culture

21 January 2018

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Cerebrovascular involvement in systemic AA and AL amyloidosis: a clear haematogenic pattern.

21 January 2018

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Changes in pathological and biochemical findings of systemic tissue sites in familial amyloid polyneuropathy more than 10 years after liver transplantation.

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21 January 2018

Identifiers

DOI

10.1136/JNNP-2014-308107

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25091367%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference