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Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments

Journal of neurology, neurosurgery and psychiatry, 2015-09, Vol.86 (9), p.1036-1043

Sekijima, Yoshiki

2015

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Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy

Journal of medical genetics, 2004-04, Vol.41 (4), p.e51-e51

2004

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

Journal of neurology, neurosurgery and psychiatry, 2015-02, Vol.86 (2), p.159-167

2015

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Treating TTR amyloidosis – early diagnosis is essential

Journal of neurology, neurosurgery and psychiatry, 2024-06, Vol.95 (6), p.488-488

Reilly, Mary M

2024

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Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers

Journal of neurology, neurosurgery and psychiatry, 2024-06, Vol.95 (6), p.489-499

2024

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Cardiac transthyretin amyloidosis

Heart (British Cardiac Society), 2012-11, Vol.98 (21), p.1546-1554

2012

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Diagnostic challenges in hereditary transthyretin amyloidosis with polyneuropathy: avoiding misdiagnosis of a treatable hereditary neuropathy

Journal of neurology, neurosurgery and psychiatry, 2017-05, Vol.88 (5), p.457-458

2017

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Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome

Journal of medical genetics, 2005-12, Vol.42 (12), p.953-956

2005

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Change in N-terminal pro-B-type natriuretic peptide at 1 year predicts mortality in wild-type transthyretin amyloid cardiomyopathy

Heart (British Cardiac Society), 2022-03, Vol.108 (6), p.474-478

2022

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Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas

Journal of neurology, neurosurgery and psychiatry, 2012-02, Vol.83 (2), p.152-158

2012

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A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK

Journal of neurology, neurosurgery and psychiatry, 2016-06, Vol.87 (6), p.620-627

2016

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Conjunctival lymphangiectasia as a biomarker of severe systemic disease in Ser77Tyr hereditary transthyretin amyloidosis

British journal of ophthalmology, 2020-10, Vol.104 (10), p.1363-1367

2020

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Transthyretin-type cerebral amyloid angiopathy: a serious complication in post-transplant patients with familial amyloid polyneuropathy

Journal of neurology, neurosurgery and psychiatry, 2015-02, Vol.86 (2), p.124-124

Sekijima, Yoshiki

2015

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Transthyretin Val30Met familial amyloid polyneuropathy: a considerably different clinical picture and natural course in endemic and non-endemic areas

Journal of neurology, neurosurgery and psychiatry, 2012-02, Vol.83 (2), p.121-121

Ikeda, Shu-ichi

2012

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Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families

Journal of medical genetics, 2003-11, Vol.40 (11), p.e120-120

2003

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

Journal of neurology, neurosurgery and psychiatry, 2007-02, Vol.78 (2), p.193-195

2007

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Early onset vitreous amyloidosis in familial amyloidotic polyneuropathy with a transthyretin Glu54Gly mutation is associated with elevated vitreous VEGF

British journal of ophthalmology, 2007-12, Vol.91 (12), p.1607-1609

2007

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

Journal of neurology, neurosurgery and psychiatry, 2004-10, Vol.75 (10), p.1463-1466

2004

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Characterisation and management of vitreous and nerve amyloid in familial amyloid polyneuropathy due to variant transthyretin, Phe33Val

British journal of ophthalmology, 2008-01, Vol.92 (1), p.34-35

2008

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“Sporadic” familial amyloidotic polyneuropathy in a German patient with B cell lymphocytic leukaemia

Journal of neurology, neurosurgery and psychiatry, 2002-07, Vol.73 (1), p.86-87

2002

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Hereditary cardiac amyloidosis associated with the transthyretin Ile122 mutation in a white man

Heart (British Cardiac Society), 1999-09, Vol.82 (3), p.e2-e2

1999

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A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy

Journal of medical genetics, 1998-01, Vol.35 (1), p.23-30

1998

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Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study

Journal of neurology, neurosurgery and psychiatry, 1995-07, Vol.59 (1), p.45-49

1995

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Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant

British Heart Journal, 1993-08, Vol.70 (2), p.111-115

1993

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Restless legs syndrome and nocturnal myoclonus: initial clinical manifestation of familial amyloid polyneuropathy

Journal of neurology, neurosurgery and psychiatry, 1990-06, Vol.53 (6), p.522-525

1990

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Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments

Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy

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

Treating TTR amyloidosis – early diagnosis is essential

Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers

Cardiac transthyretin amyloidosis

Diagnostic challenges in hereditary transthyretin amyloidosis with polyneuropathy: avoiding misdiagnosis of a treatable hereditary neuropathy

Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome

Change in N-terminal pro-B-type natriuretic peptide at 1 year predicts mortality in wild-type transthyretin amyloid cardiomyopathy

Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas

A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK

Conjunctival lymphangiectasia as a biomarker of severe systemic disease in Ser77Tyr hereditary transthyretin amyloidosis

Transthyretin-type cerebral amyloid angiopathy: a serious complication in post-transplant patients with familial amyloid polyneuropathy

Transthyretin Val30Met familial amyloid polyneuropathy: a considerably different clinical picture and natural course in endemic and non-endemic areas

Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families

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

Early onset vitreous amyloidosis in familial amyloidotic polyneuropathy with a transthyretin Glu54Gly mutation is associated with elevated vitreous VEGF

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

Characterisation and management of vitreous and nerve amyloid in familial amyloid polyneuropathy due to variant transthyretin, Phe33Val

“Sporadic” familial amyloidotic polyneuropathy in a German patient with B cell lymphocytic leukaemia

Hereditary cardiac amyloidosis associated with the transthyretin Ile122 mutation in a white man

A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy

Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study

Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant

Restless legs syndrome and nocturnal myoclonus: initial clinical manifestation of familial amyloid polyneuropathy

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