Familial amyloid polyneuropathy
D Adams, C Cauquil, C Labeyrie - Current opinion in neurology, 2017 - journals.lww.com
Familial amyloid polyneuropathy : Current Opinion in Neurology Familial amyloid
polyneuropathy : Current Opinion in Neurology Log in or Register Subscribe to journalSubscribe …
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Antibodies against the node of Ranvier: a real-life evaluation of incidence, clinical features and response to treatment based on a prospective analysis of 1500 sera
E Delmont, A Brodovitch, L Kouton, T Allou… - Journal of …, 2020 - Springer
Introduction IgG4 antibodies against neurofascin (Nfasc155 and Nfasc140/186), contactin
(CNTN1) and contactin-associated protein (Caspr1) are described in specific subtypes of …
(CNTN1) and contactin-associated protein (Caspr1) are described in specific subtypes of …
[HTML][HTML] The 2016–2019 ImmunoTOX assessment board report of collaborative management of immune-related adverse events, an observational clinical study
JM Michot, A Lappara, J Le Pavec… - European Journal of …, 2020 - Elsevier
Purpose We investigated the activities of an ImmunoTOX board, an academic,
multidisciplinary group of oncologists and organ specialists that adopts a real-life, case-by …
multidisciplinary group of oncologists and organ specialists that adopts a real-life, case-by …
Contribution of plexus MRI in the diagnosis of atypical chronic inflammatory demyelinating polyneuropathies
P Lozeron, MC Lacour, C Vandendries… - Journal of the …, 2016 - Elsevier
Nerve enlargement has early been recognized in CIDP and plexus MRI hypertrophy has
been reported in typical CIDP cases. Our aim is to determine plexus MRI value in the …
been reported in typical CIDP cases. Our aim is to determine plexus MRI value in the …
[HTML][HTML] Analysis of autonomic outcomes in APOLLO, a phase III trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis
A González-Duarte, JL Berk, D Quan… - Journal of …, 2020 - Springer
Hereditary transthyretin-mediated (hATTR) amyloidosis is a progressive, debilitating disease
often resulting in early-onset, life-impacting autonomic dysfunction. The effect of the RNAi …
often resulting in early-onset, life-impacting autonomic dysfunction. The effect of the RNAi …
Treating hereditary transthyretin amyloidosis: Present & future challenges
A Echaniz-Laguna, C Cauquil, C Labeyrie… - Revue Neurologique, 2023 - Elsevier
Hereditary transthyretin amyloidosis (ATTRv) is a rare, lethal, autosomal dominant adult-
onset genetic gain-of function (GOF) disorder provoked by mutations in the TTR gene. Until …
onset genetic gain-of function (GOF) disorder provoked by mutations in the TTR gene. Until …
Skin amyloid deposits and nerve fiber loss as markers of neuropathy onset and progression in hereditary transthyretin amyloidosis
L Leonardi, C Adam, G Beaudonnet… - European Journal of …, 2022 - Wiley Online Library
Background and purpose This study was undertaken to assess skin biopsy as a marker of
disease onset and severity in hereditary transthyretin amyloidosis with polyneuropathy …
disease onset and severity in hereditary transthyretin amyloidosis with polyneuropathy …
Angiographic signatures of the predominant form of familial transthyretin amyloidosis (Val30Met mutation)
A Rousseau, C Terrada, S Touhami, E Barreau… - American journal of …, 2018 - Elsevier
Purpose To describe abnormalities in choroidal and retinal vasculature associated with
Val30Met familial transthyretin amyloidosis (V30M-FTA) using fluorescein and indocyanine …
Val30Met familial transthyretin amyloidosis (V30M-FTA) using fluorescein and indocyanine …
Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort
S Montaut, N Diedhiou, P Fahrer, C Marelli… - Journal of …, 2021 - Springer
Objective Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is
a recessively inherited multisystem ataxia compromising cerebellar, vestibular, and sensory …
a recessively inherited multisystem ataxia compromising cerebellar, vestibular, and sensory …
Charcot–Marie–Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study
Abstract Background and purpose Charcot–Marie–Tooth (CMT) disease, an untreatable
hereditary polyneuropathy, may mimic chronic inflammatory demyelinating …
hereditary polyneuropathy, may mimic chronic inflammatory demyelinating …