Perifere Neuropathieën

Publicaties

Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution

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Human molecular genetics - ISSN 0964-6906-28:4 (2019) p. 615-627
Auteur(s)

PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease

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Journal of neurology, neurosurgery and psychiatry - ISSN 0022-3050-89:8 (2018) p. 870-878
Auteur(s)
    Manisha Juneja, Abdelkrim Azmi, Jonathan Baets, Andreas Roos, Matthew J. Jennings, Paola Saveri, Chiara Pisciotta, Nathalie Bernard-Marissal, Bernard L. Schneider, Catherine Verfaillie, Roman Chrast, Pavel Seeman, Angelika F. Hahn, Peter De Jonghe, Stuart Maudsley, Rita Horvath, Davide Pareyson, Vincent Timmerman

Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering

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Cell reports - ISSN 2211-1247-23:7 (2018) p. 2026-2038
Auteur(s)
    Michiel Krols, Sammy Detry, Bob Asselbergh, Leonardo Almeida-Souza, Anna Kremer, Saskia Lippens, Riet De Rycke, Vicky De Winter, Franz-Josef Mueller, Ingo Kurth, Harvey T. McMahon, Savvas N. Savvides, Vincent Timmerman, Sophie Janssens

Autophagy in inherited peripheral neuropathies : focus on the small heat shock protein HSPB1

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Antwerpen, Universiteit Antwerpen, Faculteit Farmaceutische, Biomedische en Diergeneeskundige wetenschappen, Departement Biochemie en Biotechnologie, 2018,205 p.
Auteur(s)

A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8

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Acta neuropathologica - ISSN 0001-6322-135:1 (2018) p. 131-148
Auteur(s)
    Delphine Bouhy, Manisha Juneja, Istvan Katona, Anne Holmgren, Bob Asselbergh, Vicky De Winter, Tino Hochepied, Steven Goossens, Jody J. Haigh, Claude Libert, Chantal Ceuterick-de Groote, Joy Irobi, Joachim Weis, Vincent Timmerman