Results 21 to 30 of about 319,403 (201)

Val50Ala variant of familial amyloid neuropathy – a rare case in the Czech Republic [PDF]

Orphanet Journal of Rare Diseases, 2015
Background Hereditary amyloidosis represents approximately 4% of the total cases of amyloidoses. The most frequent familial type is caused by deposition of mutated transthyretin (TTR, prealbumin). So far it has been identified more than 100 mutations in the transthyretin gene and type of causal mutation is also characterized by a clinical picture of ...
Pika, Tomas, Latalova, Pavla, Hulkova, Helena, Flodr, Patrik, Mejzlik, Vladimir, Scudla, Vlastimil   +5 more
openaire   +1 more source

Peripheral neuropathies of childhood [PDF]

, 2009
Includes synopsis.Incldues bibliographical references (p. 195-220).Peripheral nerve disease was described by Galen (AD 130-200) over a thousand years ago.(3) Detailed anatomical illustrations were documented by Andreas Vesalius in his major work 'De ...
Wilmshurst, Jo
core   +1 more source

Emerging trends in nanomedicine: The role of RNAi-based therapies and onpattro’s clinical journey [PDF]

Iranian Journal of Basic Medical Sciences
Nanomedicine has transformed therapeutic strategies by enabling precise delivery of nucleic acid-based drugs, including small interfering RNA (siRNA), messenger RNA (mRNA), and antisense oligonucleotides.
Dilpreet Singh, Satvir Singh, Nitin Tandon, Akshay Thakur, Neena Bedi   +4 more
doaj   +1 more source

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

Journal of Medical Genetics, 2003
Among the hereditary systemic amyloidosis, transthyretin (TTR) neuropathies (OMIM #176300) are devastating disorders with an autosomal dominant transmission, expressed mainly as a progressive fibre length dependent sensorimotor polyneuropathy and life threatening autonomic dysfunction.1 Initially, the condition was recognised in northern Portugal, in ...
V, Planté-Bordeneuve, J, Carayol, A, Ferreira, D, Adams, F, Clerget-Darpoux, M, Misrahi, G, Said, C, Bonaïti-Pellié   +7 more
openaire   +2 more sources

Assembly, trafficking and function of gamma-secretase [PDF]

, 2006
gamma-Secretase catalyzes the final cleavage of the beta-amyloid precursor protein to generate amyloid-beta peptide, the principal component of amyloid plaques in the brains of patients suffering from Alzheimer's disease.
Haass, Christian, Steiner, Harald, Kaether, Christoph   +2 more
core   +1 more source

Senile Systemic Amyloidosis: Clinical Features at Presentation and Outcome [PDF]

, 2013
Background Cardiac amyloidosis is a fatal disease whose prognosis and treatment rely on identification of the amyloid type. In our aging population transthyretin amyloidosis (ATTRwt) is common and must be differentiated from other amyloid types.
Banypersad, SM, Whelan, CJ, Lachmann, HJ, Gillmore, JD, Gibbs, SD, Hawkins, PN, McCarthy, CA, Sattianayagam, P, Rowczenio, D, Wechalekar, A, Venner, CP, Petrie, A, Dungu, J, Wassef, N, Pinney, JH, Gilbertson, JA   +15 more
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Disphosphonates cardiac uptake in familial amyloid neuropathy: Comparison between DPD and HMDP [PDF]

Orphanet Journal of Rare Diseases, 2015
Background Familial amyloid polyneuropathy (FAP) is a severe hereditary disease, due to production by the liver of a genetic variant transthyretin (TTR) resulting in tissue amyloid deposits. Cardiac involvement is of major prognostic value. Diphosphonate scintigraphy has been proposed as a diagnostic tool for TTR-related cardiac amyloidosis, but there ...
Regaieg, Hamza, De Paola Chequer, Renata, Azzouna, Rana, Algalarrondo, Vincent, Mahida, Besma, Slama, Michel, Le Guludec, Dominique, Rouzet, François   +7 more
openaire   +1 more source

Pro-domain removal in ASP-2 and the cleavage of the amyloid precursor are influenced by pH. [PDF]

, 2002
BACKGROUND: One of the signatures of Alzheimer's disease is the accumulation of aggregated amyloid protein, Abeta, in the brain. Abeta arises from cleavage of the Amyloid Precursor protein by beta and gamma secretases, which present attractive candidates
Brian Austen, Liu, C, Austen, B, Chibuu Liu, Sidera, C, Christina Sidera   +5 more
core   +1 more source

Brazilian consensus for diagnosis, management and treatment of transthyretin familial amyloid polyneuropathy

Arquivos de Neuro-Psiquiatria
Transthyretin familial amyloid polyneuropathy is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy, which if untreated, leads to death in approximately 10 years.
Marcus Vinicius Pinto, Amilton Antunes Barreira, Acary Souza Bulle, Marcos Raimundo Gomes de Freitas, Marcondes Cavalcante França Jr, Francisco de Assis Aquino Gondim, Carlo Domenico Marrone, Wilson Marques Jr, Osvaldo J. M. Nascimento, Francisco Tellechea Rotta, Camila Pupe, Márcia Waddington-Cruz   +11 more
doaj   +1 more source

Real-world tafamidis experience in hereditary transthyretin amyloidosis with peripheral neuropathy in Brazil

Arquivos de Neuro-Psiquiatria
Background Tafamidis is a kinetic stabilizer that binds to the transthyretin (TTR) gene, inhibiting its dissociation. It is the only disease-modifying treatment for hereditary TTR amyloidosis with peripheral neuropathy (ATTRv-PN) available in ...
Luiz Felipe Pinto, Marcus V. Pinto, Paula Accioli, Gabriela Amorim, Renata Gervais de Santa Rosa, Moises Dias, Mariana Guedes, Carlos P. Gomez, Roberto C. Pedrosa, Marcia Waddington-Cruz   +9 more
doaj   +1 more source