Results 41 to 50 of about 2,447 (165)

Exploratory study on axonal excitability with threshold tracking technique : in healthy controls and patients with familial amyloid polyneuropathy

, 2015
Tese de mestrado, Neurociências, Faculdade de Medicina, Universidade de Lisboa, 2015Clinical neurophysiology provides quantitative measurements of peripheral nerve function.
Casanova, Isabel Afonso Martins Sanches, 1976-
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Neurodegeneration of the retina in mouse models of Alzheimer's disease: what can we learn from the retina? [PDF]

, 2011
Alzheimer's disease (AD) is an age-related progressive neurodegenerative disease commonly found among elderly. In addition to cognitive and behavioral deficits, vision abnormalities are prevalent in AD patients.
Chiu, K, Wu, A, Irene Yan-Pui Leung, Kwok-Fai So, Leung, IYP, Chan, TF, So, KF, Raymond Chuen-Chung Chang, Tin-Fung Chan, Chang, RCC, Kin Chiu, Andrew Wu   +11 more
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Peripheral neuropathies of childhood

, 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
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Three Turkish families with different transthyretin mutations

, 2015
Transthyretin (TTR)-related hereditary amyloidosis, also called familial amyloid polyneuropathy (PAP), is a rare autosomal dominant systemic disorder that presents with progressive axonal sensory, autonomic and/or motor neuropathies.
Bekirean-Kurt, CAN EBRU, TAN, Ersin, ERDEM-OZDAMAR, Sevim, GUNES, Nalan, Yilmaz, Arda   +4 more
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Systemic Amyloidosis – Insights by Cardiovascular Magnetic Resonance

, 2015
Systemic amyloidosis is the exemplar infiltrative, extracellular disease. Although it is a multi-organ disorder, cardiac involvement drives prognosis. Survival is worst in the AL amyloidosis subtype. It can affect any age and any race. There is no direct
Banypersad, SM
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Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies

, 2017
Hereditary neuropathies comprise a wide variety of chronic diseases associated to more than 80 genes identified to date. We herein examined 612 index patients with either a Charcot-Marie-Tooth phenotype, hereditary sensory neuropathy, familial amyloid ...
Hörtnagel, Konstanze, Debora Vittore, Riesch, Erik, Schöls, Ludger, Nicola Glöckle, Fischer, D., Hornemann, Thorsten, Dohrn, Maike F., Markus Blankenburg, Lerche, Holger, Corina Heller, Dohrn, Maike F; https://orcid.org/, Ludger Schöls, Grimm, Alexander, Battke, F., Anja Schirmacher, Katona, I., Vittore, D., Burkhard Gess, Ferbert, A., Suriyanarayanan, Saranya, Young, Peter, Florian Battke, Peter Young, Dräger, Bianca, Wolking, S., Mulahasanovic, Lejla, Urania Kotzaeridou, Schrank, B., Young, P., Mohr, Julia, Holger Lerche, Blankenburg, M., Suriyanarayanan, S., Dirk Fischer, Bertold Schrank, Biskup, Saskia, Saskia Biskup, Battke, Florian, Gess, Burkhard, Bianca Dräger, Kurlemann, G., Glöckle, N., Ferbert, Andreas, Schrank, Bertold, Andreas Ferbert, Christine Bauer, Jörg B. Schulz, Hornemann, T., Claeys, Kristl G, Mohr, J., Glöckle, Nicola, Bauer, C., Maike F. Dohrn, Kotzaeridou, Urania, Becker, A., Katona, Istvan, Dohrn, M., Julia Mohr, Kristl G. Claeys, Gess, B., Korenke, G Christoph, Schirmacher, A., Mulahasanovic, L., Konstanze Hörtnagel, Grimm, A., Fischer, Dirk, Beate Schlotter-Weigel, Schulz, Jörg B., G. Christoph Korenke, Kurlemann, Gerhard, Korenke, G., Schlotter-Weigel, Beate, Biskup, S., Alexander Grimm, Erik Riesch, Istvan Katona, Stefan Wolking, Blankenburg, Markus, Wolking, Stefan, Lerche, H., Claeys, Kristl, Andrea Becker, Saranya Suriyanarayanan, Becker, Andrea, Schlotter-Weigel, B., Dräger, B., Heller, Corina, Schöls, L., Thorsten Hornemann, Bauer, Christine, Vittore, Debora, Hörtnagel, K., Korenke, G. Christoph, Lejla Mulahasanovic, Claeys, Kristl G., Heller, C., Schulz, J., Schulz, Jörg B; https://orcid.org/, Gerhard Kurlemann, et al, Kotzaeridou, U., Schirmacher, Anja, Riesch, E.   +103 more
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Quality of Life Following Liver Transplantation in Patients With Familial Amyloid Neuropathy: A Prospective Controlled Study

Psychology, Community & Health, 2014
Aim: The present study aimed to evaluate the change in quality of life 12 months following liver transplantation in patients with Familial Amyloid Polyneuropathy (FAP). Method: In this study 150 transplant candidates, attending the outpatient clinic of a Liver Transplantation Centre in Lisbon, were assessed between March 1, 2006 and December 1, 2007 ...
Telles-Correia, Diogo, Barbosa, António, Mega, Inês, Monteiro, Estela, Barroso, Eduardo   +4 more
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Upper limb onset of hereditary transthyretin amyloidosis is common in non‐endemic areas

, 2019
International audienceBACKGROUND AND PURPOSE:The aim is to describe an uncommon phenotype of hereditary ATTR neuropathy with upper limb onset.METHODS:The French TTR Familial Amyloid Polyneuropathy database was used for a retrospective evaluation of 32 ...
Labauge, Pierre, D. Adams, M. Théaudin, Slama, M.S., C. Adam, Slama, M., Guiochon‐mantel, A., Guiochon-Mantel, A., Labeyrie, C., V. Algalarrondo, P. Lozeron, C. Labeyrie, Théaudin, M., Lozeron, P., Labeyrie, Céline, C. Lacroix, Algalarrondo, V., Adam, C., Adams, D., Cauquil, C., Lacroix, C., C. Cauquil, A. Guiochon‐Mantel, M. S. Slama   +23 more
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Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses

, 2016
International audienceDistinguishing between hereditary and inflammatory neuropathy is usually straightforward on clinical grounds with the help of a family history. There are nevertheless cases where the distinction is less clear.
Attarian, Shahram, Rajabally, Yusuf A., Adams, David, Latour, Philippe   +3 more
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Клинический случай транстиретинового амилоидоза с задержкой верификации диагноза у полностью обследованной больной

, 2018
The DNA analysis revealed a transthyretin amyloidosis with a rare Phe53Leu mutation in a woman of 62 y.o. with the late onset progressive generalized axonal sensomotor neuropathy, dry eye syndrome, and an episode of severe unintentionally weight loss ...
В. А. Варшавский, V. A. Varshavskiy, T. A. Adyan, Т. А. Адян, E. S. Naumova, Е. С. Наумова, С. С. Никитин, S. S. Nikitin, Д. С. Дружинин, D. S. Druzhinin   +9 more
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