Zobrazeno 1 - 10 of 11 pro vyhledávání: '"Doriette Soler"'
1
Genetic landscape of ALS in Malta based on a quinquennial analysis
Autor: Maia Farrugia Wismayer, Andrew Farrugia Wismayer, Rebecca Borg, Karl Bonavia, André Abela, Charmaine Chircop, Josanne Aquilina, Doriette Soler, Adrian Pace, Malcolm Vella, Neville Vassallo, Ruben J. Cauchi
Genetic risk for amyotrophic lateral sclerosis (ALS) is highly elevated in genetic isolates, like the island population of Malta in the south of Europe, providing a unique opportunity to investigate the genetics of this disease. Here we characterize
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82e7c217f8492fed1d0169abd4d1144e
https://www.um.edu.mt/library/oar/handle/123456789/110794
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2
International consensus recommendations on the diagnostic work-up for malformations of cortical development
Autor: Daniela T. Pilz, Katrien Stouffs, Orly Reiner, Anna Jansen, Eleonora Aronica, Edith Said, Renske Oegema, WB Dobyns, Richard J. Leventer, David Gomez Andres, Nadia Bahi-Buisson, Martina Wilke, Ivana Pogledic, Dina Amrom, Ute Hehr, Ghayda Mirzaa, Elena Parrini, Luis M Valor, Renzo Guerrini, Valerio Conti, Andrew E. Fry, Doriette Soler, Tahsin Stefan Barakat, Grazia M.S. Mancini, Nataliya Di Donato, Maha S. Zaki, T. Geis
Publikováno v: Nature reviews. Neurology
Nature Reviews Neurology, 16(11), 618-635. Nature Publishing Group
Nature Reviews. Neurology
Nature reviews. Neurology, 16(11), 618-635. Nature Publishing Group
Malformations of cortical development (MCDs) are neurodevelopmental disorders that result from abnormal development of the cerebral cortex in utero. MCDs place a substantial burden on affected individuals, their families and societies worldwide, as t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::391fb74cf7cabbac024a26d2073c5fb8
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/313050
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5
Vici syndrome-A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy
Autor: Edith Said, Doriette Soler, Caroline Sewry
Publikováno v: American Journal of Medical Genetics Part A. :440-444
Since its first description by Vici et al. [1988], further reports have continued to broaden the clinical phenotype of this rare multisystem disorder. Main features of agenesis of corpus callosum (ACC), hypopigmentation, immunodeficiency/recurrent in
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7822a7c988f96595ad1d2996565633c
https://doi.org/10.1002/ajmg.a.34273
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6
Pilot of a Child Health Electronic Surveillance System (CHESS) in Malta
Autor: Andrew Amato-Gauci, Doriette Soler, Dennis Baldacchino
Publikováno v: Journal of Public Health. 15:199-209
Following a 6-year period of system design and planning, the Primary Health Care Department in Malta introduced a Child Health Electronic Surveillance System (CHESS) within Well Baby Clinics and primary schools. The primary aim was to computerize all
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8ed09335ff711f076d9f61f0e76d47ff
https://doi.org/10.1007/s10389-007-0096-2
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7
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
Autor: Colin D. Ferrie, Johannes S H Vles, Cyril Goizet, Dominique Roland, Alec Aeby, Simon Attard Montalto, Bruce E. Hayward, Yanick J. Crow, Pierre Landrieu, Yong-hui Jiang, Stavit A. Shalev, John P McClure, Willam S Benko, Carlos A. Bacino, Kevin Rostasy, Pam Tomlin, John Dean, Andrew P. Jackson, Catherine Dery, Helen Cox, Peter Corry, John Tolmie, Daniel R. Carvalho, Sameer M. Zuberi, Sunita Seal, Bruno Barroso, Federica Vagnarelli, Margo L. Whiteford, Sally Ann Lynch, Giovanni Lanzi, Hans-Jurgen Christen, Enrico Bertini, Suzanna G.M. Frints, Gyan P Sinha, Bernhard Weschke, Amy Kao, Ken K. Nischal, Kate Chandler, Raphael Schiffmann, Ben C.J. Hamel, Simona Orcesi, Andrew Green, Blanca Gener, Pierre Lebon, Daphna Marom, R. Curtis Rogers, Gillian I. Rice, Ian M. Carr, Agnes Guet, C Sierra Corcoles, Raoul C.M. Hennekam, Sabine Scholl-Bürgi, Teresa Patrick, Claire F Taylor, Dieter Kotzot, Mary D. King, Evangeline Wassmer, Claudine De Praeter, Nathalie Van der Aa, Christopher J. Burke, Edward Blair, Wilfried Kratzer, Han G. Brunner, Marianne Till, Marie-Laure Moutard, Lieven Lagae, Adeline Vanderver, Frances M. Cowan, Andrea Leitch, Julie S. Prendiville, Didier Lacombe, Michèl A.A.P. Willemsen, E G Hermione Lyall, Thomas Voit, Rekha Parmar, John R. Østergaard, Tracy A Briggs, John H. Livingston, Doriette Soler, Andrew J. Kornberg, Marie Husson, Marjo S. van der Knaap, Francoise Goutieres, Enza Maria Valente, Arvid Heiberg, Helen Kingston, John B.P. Stephenson, Joerg Klepper, Serge B. Melançon, Peter Baxter, Amparo Sanchis, Louise Brueton, Andreas Zankl, Elisa Fazzi, Rasieka Jayatunga, David T. Bonthron, Michael J. Lyons, Stefano D'Arrigo, Uta Tacke, Elisabeth Rosser, Carsten Bergmann, Agathe Roubertie, Kim Flintoff, Ronen Spiegel, Rudy Van Coster, Roberta Biancheri, Tiong Yang Tan, Corinne De Laet, Jean Aicardi, Sarina G. Kant, Magnhild Rasmussen, Robert McWilliam, Charles Marques Lourenço, Leena D Mewasingh, Angels García-Cazorla, Rafael Artuch, Nenad Blau, Ming K. Lim
Publikováno v: American journal of human genetics, 81(4), 713-725. Cell Press
Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
American Journal of Human Genetics, 81, 713-25
Rice, G, Patrick, T, Parmar, R, Taylor, C F, Aeby, A, Aicardi, J, Artuch, R, Montalto, S A, Bacino, C A, Barroso, B, Baxter, P, Benko, W S, Bergmann, C, Bertini, E, Biancheri, R, Blair, E M, Blau, N, Bonthron, D T, Briggs, T, Brueton, L A, Brunner, H G, Burke, C J, Carr, I M, Carvalho, D R, Chandler, K E, Christen, H-J, Corry, P C, Cowan, F M, Cox, H, D'Arrigo, S, Dean, J, De Laet, C, De Praeter, C, Dery, C, Ferrie, C D, Flintoff, K, Frints, S G M, Garcia-Cazorla, A, Gener, B, Goizet, C, Goutieres, F, Green, A J, Guet, A, Hamel, B C J, Hayward, B E, Heiberg, A, Hennekam, R C, Husson, M, Jackson, A P, Jayatunga, R, Jiang, Y-H, Kant, S G, Kao, A, King, M D, Kingston, H M, Klepper, J, van der Knaap, M S, Kornberg, A J, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, P G, Lanzi, G, Leitch, A, Lim, M J, Livingston, J H, Lourenco, C M, Lyall, E G H, Lynch, S A, Lyons, M J, Marom, D, McClure, J P, McWilliam, R, Melancon, S B, Mewasingh, L D, Moutard, M-L, Nischal, K K, Ostergaard, J R, Prendiville, J, Rasmussen, M, Rogers, R C, Roland, D, Rosser, E M, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl-Burgi, S, Seal, S, Shalev, S A, Corcoles, C S, Sinha, G P, Soler, D, Spiegel, R, Stephenson, J B P, Tacke, U, Tan, T Y, Till, M, Tolmie, J L, Tomlin, P, Vagnarelli, F, Valente, E M, Van Coster, R N A, Van der Aa, N, Vanderver, A, Vles, J S H, Voit, T, Wassmer, E, Weschke, B, Whiteford, M L, Willemsen, M A A, Zankl, A, Zuberi, S M, Orcesi, S, Fazzi, E, Lebon, P & Crow, Y J 2007, ' Clinical and molecular phenotype of Aicardi-Goutieres syndrome ', American Journal of Human Genetics, vol. 81, no. 4, pp. 713-25 . https://doi.org/10.1086/521373
Rice, G, Patrick, T, Parmar, R, Taylor, C F, Aeby, A, Aicardi, J, Artuch, R, Montalto, S A, Bacino, C A, Barroso, B, Baxter, P, Benko, W S, Bergmann, C, Bertini, E, Biancheri, R, Blair, E M, Blau, N, Bonthron, D T, Briggs, T, Brueton, L A, Brunner, H G, Burke, C J, Carr, I M, Carvalho, D R, Chandler, K E, Christen, H J, Corry, P C, Cowan, F M, Cox, H, D'Arrigo, S, Dean, J, De Laet, C, De Praeter, C, Déry, C, Ferrie, C D, Flintoff, K, Frints, S G M, Garcia-Cazorla, A, Gener, B, Goizet, C, Goutières, F, Green, A J, Guët, A, Hamel, B C J, Hayward, B E, Heiberg, A, Hennekam, R C, Husson, M, Jackson, A P, Jayatunga, R, Jiang, Y H, Kant, S G, Kao, A, King, M D, Kingston, H M, Klepper, J, Van Der Knaap, M S, Kornberg, A J, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, P G, Lanzi, G, Leitch, A, Lim, M J, Livingston, J H, Lourenco, C M, Lyall, E G H, Lynch, S A, Lyons, M J, Marom, D, McClure, J P, McWilliam, R, Melancon, S B, Mewasingh, L D, Moutard, M L, Nischal, K K, Østergaard, J R, Prendiville, J, Rasmussen, M, Rogers, R C, Roland, D, Rosser, E M, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl-Bürgi, S, Seal, S, Shalev, S A, Corcoles, C S, Sinha, G P, Soler, D, Spiegel, R, Stephenson, J B P, Tacke, U, Tiong, Y T, Till, M, Tolmie, J L, Tomlin, P, Vagnarelli, F, Valente, E M, Van Coster, R N A, Van Der Aa, N, Vanderver, A, Vles, J S H, Voit, T, Wassmer, E, Weschke, B, Whiteford, M L, Willemsen, M A A, Zankl, A, Zuberi, S M, Orcesi, S, Fazzi, E, Lebon, P & Crow, Y J 2007, ' Clinical and molecular phenotype of Aicardi-Goutières syndrome ', American journal of human genetics, vol. 81, no. 4, pp. 713-725 . https://doi.org/10.1086/521373
American Journal of Human Genetics, 81, 4, pp. 713-25
Rice, G, Patrick, T, Parmar, R, Taylor, C F, Aeby, A, Aicardi, J, Artuch, R, Montalto, S A, Bacino, C A, Barroso, B, Baxter, P, Benko, W S, Bergmann, C, Bertini, E, Biancheri, R, Blair, E M, Blau, N, Bonthron, D T, Briggs, T, Brueton, L A, Brunner, H G, Burke, C J, Carr, I M, Carvalho, D R, Chandler, K E, Christen, H-J, Corry, P C, Cowan, F M, Cox, H, D'Arrigo, S, Dean, J, De Laet, C, De Praeter, C, Dery, C, Ferrie, C D, Flintoff, K, Frints, S G M, Garcia-Cazorla, A, Gener, B, Goizet, C, Goutieres, F, Green, A J, Guet, A, Hamel, B C J, Hayward, B E, Heiberg, A, Hennekam, R C, Husson, M, Jackson, A P, Jayatunga, R, Jiang, Y-H, Kant, S G, Kao, A, King, M D, Kingston, H M, Klepper, J, van der Knaap, M S, Kornberg, A J, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, P G, Lanzi, G, Leitch, A, Lim, M J, Livingston, J H, Lourenco, C M, Lyall, E G H, Lynch, S A, Lyons, M J, Marom, D, McClure, J P, McWilliam, R, Melancon, S B, Mewasingh, L D, Moutard, M-L, Nischal, K K, Østergaard, J R, Prendiville, J, Rasmussen, M, Rogers, R C, Roland, D, Rosser, E M, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl-Burgi, S, Seal, S, Shalev, S A, Corcoles, C S, Sinha, G P, Soler, D, Spiegel, R, Stephenson, J B P, Tacke, U, Tan, T Y, Till, M, Tolmie, J L, Tomlin, P, Vagnarelli, F, Valente, E M, Van Coster, R N A, Van der Aa, N, Vanderver, A, Vles, J S H, Voit, T, Wassmer, E, Weschke, B, Whiteford, M L, Willemsen, M A A, Zankl, A, Zuberi, S M, Orcesi, S, Fazzi, E, Lebon, P & Crow, Y J 2007, ' Clinical and molecular phenotype of Aicardi-Goutieres syndrome. ', American Journal of Human Genetics, vol. 81, no. 4, pp. 713-25 . https://doi.org/10.1086/521373
The American journal of human genetics
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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83e581aa8ee7db9b20b5d85e809f6f00
https://doi.org/10.1086/521373
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8
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Autor: Marlène Rio, Vincent Laugel, Christine Barnerias, Vijay Aswani, Guillermo Agosta, Rachel Straussberg, Diana Chase, Maja Di Rocco, Mohamed S. Abdel-Hamid, Daniel R. Carvalho, Montse Arellano, Maya Thomas, Yanick J. Crow, Giovanni Crichiutti, Lyvia Dabydeen, Miriam Bloom, Kathryn J. Swoboda, Bertrand Isidor, Kevin J. Murray, Nasaim Khan, Agathe Roubertie, Kathryn Bailey, Johanna Lowenstein Schmidt, Noemi Nunez-Enamorado, Venkateswaran Ramesh, Simona Orcesi, Michael C Fahey, Keng Wee Teik, Ram L. Kumar, Gabriella Forte, Roberta Battini, Alec Aeby, Flore Rozenberg, Nadia Bahi-Buisson, Eileen Baildam, Sam Ackroyd, Magnhild Rasmussen, Doriette Soler, Diana Rodriguez, Marjo S. van der Knaap, Sheela Nampoothiri, Bülent Kara, Ivana Olivieri, Julie Vogt, Julie S. Prendiville, Ghada M H Abdel-Salam, Thierry Billette de Villemeur, Ronen Spiegel, Tommy Stödberg, Rudy Van Coster, Marianne Till, Alberto B. Burlina, Enza Maria Valente, Patrick J. Oades, Gyanranjan P. Sinha, Beverley Anderson, William P Whitehouse, Raymon Vijzelaar, Liesbeth De Waele, Cristina Cereda, Hannah J. Webb, Gillian I. Rice, Geneviève Bernard, Anthony Oojageer, Stefano D'Arrigo, Ming K. Lim, Donncha Hanrahan, Nuno Cordeiro, Adeline Vanderver, Hannah Gornall, Manuel Castro-Gago, Johann te Water Naude, Grace Vassallo, Stavit Allon-Shalev, Belén Pérez-Dueñas, Charles Marques Lourenço, Sameer M. Zuberi, Magalie Barth, Lieven Lagae, Cyril Goizet, Christian de Goede, Tiong Yang Tan, Jenny Morton, Riyana Babul-Hirji, Mark T Mackay, Geoffrey Wallace, Elisabetta Salvatici, Heinz Lauffer, Corinne De Laet, Federica Ricci, Russell C. Dale, Maria Luisa Carpanelli, Catherine Albin, Elisa Fazzi, Michael W. Beresford, Pierre Lebon, Abigail Collins, Roberta La Piana, Amy Pizzino, Edward Blair, Nirmala Rani Gowrinathan, Mohnish Suri, Rima Nabbout, Guy Helman, Luc Régal, Karin Segers, John H. Livingston, Davide Tonduti, Uta Tacke, António Figueiredo, Robyn Whitney, Blanca Gener, John R. Østergaard, David Chitayat, Kalpana Gowrishankar, Tarja Linnankivi, Edwin P. Kirk, Jean-Pierre Lin, Pierre Landrieu, Isabella Moroni, Mary D. King, Colin D. Ferrie, Koenraad Devriendt, Anna Cavallini, Shane McKee, Marika Bianchi, Daphna Marom, Marcin Szynkiewicz, Isabelle Desguerre, Evangeline Wassmer, Kate Chandler, Maha S. Zaki, Inés Denzler, Giada Ariaudo, Marie Laure Moutard, Concepcion Sierra Corcoles
Publikováno v: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Crow, Y J, Chase, D S, Schmidt, J L, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, M S, Abdel-Salam, G M, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, E M, Bahi-Buisson, N, Bailey, K M, Barnerias, C, Barth, M, Battini, R, Beresford, M W, Bernard, G, Bianchi, M, de Villemeur, T B, Blair, E M, Bloom, M, Burlina, A B, Carpanelli, M L, Carvalho, D R, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, K E, Chitayat, D A, Collins, A E, Corcoles, C S, Cordeiro, N J V, Crichiutti, G, Dabydeen, L, Dale, R C, D'Arrigo, S, De Goede, C G E L, de Laet, C, De Waele, L M H, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, M C, Fazzi, E, Ferrie, C D, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, N R, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, L, Khan, N, King, M D, Kirk, E P, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, M J, Lin, J P S M, Linnankivi, T, Mackay, M T, Marom, D R, Lourenco, C M, McKee, S A, Moroni, I, Morton, J E V, Moutard, M L, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, P J, Olivieri, I, Ostergaard, J R, Perez-Duenas, B, Prendiville, J S, Ramesh, V, Rasmussen, M, Regal, L, Ricci, F, Rio, M, Knaap, M, Orcesi, S & Rice, G I 2015, ' Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 ', American Journal of Medical Genetics Part A, vol. 167, no. 2, pp. 296-312 . https://doi.org/10.1002/ajmg.a.36887
Crow, Y J, Chase, D S, Lowenstein Schmidt, J, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, M S, Abdel-Salam, G M, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, E M, Bahi-Buisson, N, Bailey, K M, Barnerias, C, Barth, M, Battini, R, Beresford, M W, Bernard, G, Bianchi, M, Billette de Villemeur, T, Blair, E M, Bloom, M, Burlina, A B, Carpanelli, M L, Carvalho, D R, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, K E, Chitayat, D A, Collins, A E, Sierra Corcoles, C, Cordeiro, N J V, Crichiutti, G, Dabydeen, L, Dale, R C, D'Arrigo, S, De Goede, C G E L, De Laet, C, De Waele, L M H, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, M C, Fazzi, E, Ferrie, C D, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, N R, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, B, Khan, N, King, M D, Kirk, E P, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, M J, Lin, J-P S-M, Linnankivi, T, Mackay, M T, Marom, D R, Marques Lourenço, C, McKee, S A, Moroni, I, Morton, J E V, Moutard, M-L, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, P J, Olivieri, I, Ostergaard, J R, Pérez-Dueñas, B, Prendiville, J S, Ramesh, V, Rasmussen, M, Régal, L, Ricci, F, Rio, M, Rodriguez, D, Roubertie, A, Salvatici, E, Segers, K A, Sinha, G P, Soler, D, Spiegel, R, Stödberg, T I, Straussberg, R, Swoboda, K J, Suri, M, Tacke, U, Tan, T Y, te Water Naude, J, Wee Teik, K, Thomas, M M, Till, M, Tonduti, D, Valente, E M, Van Coster, R N, van der Knaap, M S, Vassallo, G, Vijzelaar, R, Vogt, J, Wallace, G B, Wassmer, E, Webb, H J, Whitehouse, W P, Whitney, R N, Zaki, M S, Zuberi, S M, Livingston, J H, Rozenberg, F, Lebon, P, Vanderver, A, Orcesi, S & Rice, G I 2015, ' Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 ', American Journal of Medical Genetics. Part A, vol. 167A, no. 2, pp. 296-312 . https://doi.org/10.1002/ajmg.a.36887
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
American Journal of Medical Genetics Part A, 167(2), 296-312. Wiley-Liss Inc.
American journal of medical genetics. Part A, 167(2), 296-312. Wiley-Liss Inc.
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Aicardi-Goutieres syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conf
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1337c25fc2ffde230315cbbf40e20927
Wiley Online Library
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10
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort
Autor: Sinéad M. Murphy, Henry Houlden, Michael P. Lunn, Mary M. Reilly, Doriette Soler, Michael Donaghy, Mark Roberts, Nicola Foulds, Sebastian Brandner, Hadi Manji, Francesco Muntoni, James M. Polke, Gita Ramdharry, Rita Horvath, Gabrielle L. Davidson, NP Davies, S. Price, Julian Blake, M. A. Mohamed Salih, Matilde Laura, Mary B. Davis
Publikováno v: Journal of neurology. 259(8)
The hereditary sensory and autonomic neuropathies (HSAN, also known as the hereditary sensory neuropathies) are a clinically and genetically heterogeneous group of disorders, characterised by a progressive sensory neuropathy often complicated by ulce
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce70908bbea4456cc6577d18887afe8f
https://pubmed.ncbi.nlm.nih.gov/22302274
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