Results 11 to 20 of about 319,403 (201)

40 years of CEPARM: transforming amyloidosis related to transthyretin from neglect to recognition [PDF]

Arquivos de Neuro-Psiquiatria
Variant transthyretin amyloidosis with polyneuropathy (ATTRv-PN) and cardiomyopathy (ATTRv-CM), formerly known as familial amyloidotic polyneuropathy (FAP), is a severe, progressive disorder caused by mutations in the transthyretin (TTR) gene ...
Marcia Waddington Cruz, Marleide da Mota Gomes   +1 more
doaj   +2 more sources

Neuropathy in Val122Ile Hereditary Transthyretin (ATTR) Amyloidosis: A Multicenter Retrospective Cohort Study [PDF]

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims The Val122Ile ATTR Amyloidosis has traditionally been linked to cardiac manifestations. Recent studies suggest that neuropathy may be relevant. In this study, we characterized its peripheral nerve manifestations in depth. Methods This was a national, multicenter, observational, retrospective study.
Anna Paula Paranhos, Marcela Câmara Machado Costa, Carolina Lavigne Moreira, Diogo Fernandes dos Santos, Marcondes Cavalcante França, Renan Flavio de França Nunes, Osvaldo José Moreira do Nascimento, Jemima Araujo da Silva Batista, Eduardo Boiteux Uchôa Cavalcanti, Cleonisio Leite Rodrigues, Ândrea Virgínia Ferreira Chaves, Marcelo Soares Kerstenetzky, Lara Albuquerque de Brito, Carlo Domênico Marrone, Marcus Vinicius Magno Gonçalves, Pedro José Tomaselli, Wilson Marques   +16 more
wiley   +2 more sources

Spatial patterns of β-amyloid (Aβ) deposits in familial and sporadic Alzheimer's disease [PDF]

, 2011
The spatial patterns of the diffuse, primitive, and classic β-amyloid (Aβ) deposits were compared in cortical regions in early-onset familial Alzheimer's disease (EO-FAD) linked to mutations of the amyloid precursor protein APP) or presenilin 1 (PSEN1 ...
Armstrong, Richard A.
core   +8 more sources

Regulation of the metabolism of the Alzheimer's amyloid precursor protein by contactin 5 and BIN1 [PDF]

, 2012
Alzheimer’s disease (AD) is a progressive form of dementia, which currently has no cure. The metabolism of the amyloid precursor protein (APP) is an important determinant in the development of AD.
Glennon, Elizabeth Bernadette Claire
core   +6 more sources

Regional distribution of amyloid-Bri deposition and its association with neurofibrillary degeneration in familial British dementia [PDF]

, 2001
Familial British dementia (FBD), pathologically characterized by cerebral amyloid angiopathy (CAA), amyloid plaques, and neurofibrillary degeneration, is associated with a stop codon mutation in the BRI gene resulting in the production of an ...
Tammaryn Lashley, Ghiso, J, Vidal, R, Ayling, H., Gibb, G, Anderton, B H, Hilary Ayling, Rostagno, A., Anderton, B.H., Plant, G., Janice L. Holton, Tamas Revesz, Revesz, T, Martinian, L, Henry Houlden, Ruben Vidal, Nicholas W. Wood, Lashley, T, Revesz, T., Frangione, B., Jorge Ghiso, Ayling, H, Holton, J.L., Christopher J. Guerin, Houlden, H, Plant, G, Holton, J L, Gordon Plant, Rostagno, A, Lashle, T., Gibb, G., Lillian Martinian, Ghiso, J., Graham Gibb, Martinian, L., Brian H. Anderton, Agueda Rostagno, Houlden, H., Wood, N.W., Frangione, B, Vidal, R., Guerin, C J, Wood, N W, Guerin, C.J., Blas Frangione   +44 more
core   +1 more source

Aluminum and Amyloid-ß in Familial Alzheimer's Disease. [PDF]

, 2020
Genetic predispositions associated with metabolism of the amyloid-ß protein precursor underlie familial Alzheimer's disease; a form of dementia characterized by early disease onset and elevated levels of cortical amyloid-ß.

core   +1 more source

Ectodomain shedding of the amyloid precursor protein: Cellular control mechanisms and novel modifiers [PDF]

, 2006
Proteolytic cleavage in the ectodomain of the amyloid precursor protein (APP) is a key regulatory step in the generation of the Alzheimer's disease amyloid-beta (A beta) pepticle and occurs through two different protease activities termed alpha- and beta-
Lichtenthaler, Stefan F.
core   +1 more source

Analysis of Toxic Amyloid Fibril Interactions at Natively Derived Membranes by Ellipsometry [PDF]

, 2015
There is an ongoing debate regarding the culprits of cytotoxicity associated with amyloid disorders. Although small pre-fibrillar amyloid oligomers have been implicated as the primary toxic species, the fibrillar amyloid material itself can also induce ...
Smith, Rachel A. S., Xue, Wei-Feng, Blakeman Ben J. F., Blakeman, Ben J. F., Smith, David P., Benjamin Abell (769585), Rachel A S Smith, David P. Smith (131751), Benjamin Abell, Wei-Feng Xue (610029), Ben J F Blakeman, Aleksey Nabok, David P Smith, Rachel A. S. Smith (769582), Smith Rachel A. S., Xue Wei-Feng, Nabok Aleksey, Abell Benjamin, Wei-Feng Xue, Ben J. F. Blakeman (769584), Abell, Benjamin, Aleksey Nabok (769583), Smith David P., Nabok, Aleksey, Leonenko, Zoya   +24 more
core   +2 more sources

Age-Dependent Neuroplasticity Mechanisms in Alzheimer Tg2576 Mice Following Modulation of Brain Amyloid-β Levels [PDF]

, 2013
The objective of this study was to investigate the effects of modulating brain amyloid-b (Ab) levels at different stages of amyloid pathology on synaptic function, inflammatory cell changes and hippocampal neurogenesis, i.e.
Nordberg, A,, Carina M Thomé, Greig, NH, Greig, Nigel H, Thomé, Carina M, Anna M Lilja, Marutle, Amelia, Daniel Gonzalez, Gonzalez, D, Marutle, A,, Lilja, AM, Amelia Marutle, Röjdner, Jennie, Gonzalez, Daniel, Rojdner, J, Elisa Storelli, Storelli, E, Jennie Röjdner, Unger-Lithner, C, Nordberg, Agneta, Tamanna Mustafiz, Mustafiz, T,, Christina Unger-Lithner, Nigel H Greig, Thome, CM, Mustafiz, Tamanna, Lilja, Anna M, Unger-Lithner, Christina, Storelli, Elisa, Agneta Nordberg   +29 more
core   +2 more sources

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

, 2021
Background: The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of ...
Borghi C, Biasucci G, EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)   +2 more
core   +1 more source