Resultados da pesquisa - (((( i mental nerve cat due ) OR ( j central nerve van dis ))) OR ( 17 augment nerve canal dis ))

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PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

Por van Paassen, Barbara W, van der Kooi, Anneke J, van Spaendonck-Zwarts, Karin Y, Verhamme, Camiel, Baas, Frank, de Visser, Marianne
Publicado em 2014

“...PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease...”
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Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

Por Semmler, Anna-Lena, Sacconi, Sabrina, Bach, J Elisa, Liebe, Claus, Bürmann, Jan, Kley, Rudolf A, Ferbert, Andreas, Anderheiden, Roland, Van den Bergh, Peter, Martin, Jean-Jacques, De Jonghe, Peter, Neuen-Jacob, Eva, Müller, Oliver, Deschauer, Marcus, Bergmann, Markus, Schröder, J Michael, Vorgerd, Matthias, Schulz, Jörg B, Weis, Joachim, Kress, Wolfram, Claeys, Kristl G
Publicado no Orphanet J Rare Dis (2014)

“... polyneuropathy, in the absence of giant axons at the nerve biopsy. We revealed several novel clinical phenotypes...”
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Brown-Vialetto-Van Laere syndrome

Por Sathasivam, Sivakumar
Publicado em 2008

“...The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized...”
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