Publications in the spotlight

Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution
Krols Michiel   Asselbergh Bob   De Rycke Riet   De Winter Vicky   Seyer Alexandre   Müller Franz-Josef   Kurth Ingo   Bultynck Geert   Timmerman Vincent   Janssens Sophie  
Human molecular genetics - ISSN 0964-6906-28:4 (2019) p. 615-627
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Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies
Haidar Mansour   Asselbergh Bob   Adriaenssens Elias   De Winter Vicky   Timmermans Jean-Pierre   Auer-Grumbach Michaela   Juneja Manisha   Timmerman Vincent  
Autophagy - ISSN 1554-8627-15:6 (2019) p. 1051-1068
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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
Siekierska Aleksandra   Stamberger Hannah   Deconinck Tine   Oprescu Stephanie N.   Partoens Michèle   Zhang Yifan   Sourbron Jo   Adriaenssens Elias   Mullen Patrick   Wiencek Patrick   Hardies Katia   Lee Jeong-Soo   Giong Hoi-Khoanh   Distelmaier Felix   Elpeleg Orly   Helbig Katherine L.   Hersh Joseph   Isikay Sedat   Jordan Elizabeth   Karaca Ender   Kecskes Angela   Lupski James R.   Kovacs-Nagy Reka   May Patrick   Narayanan Vinodh   Pendziwiat Manuela   Ramsey Keri   Rangasamy Sampathkumar   Shinde Deepali N.   Spiegel Ronen   Timmerman Vincent   von Spiczak Sarah   Helbig Ingo   Weckhuysen Sarah   Francklyn Christopher   Antonellis Anthony   de Witte Peter   Partoens Michele   Balak Chris   Belnap Newell   Claasen Ana   Courtright Amanda   de Both Matt   Huentelman Matthew J.   Naymik Marcus   Richholt Ryan   Siniard Ashley L.   Suls Arvid   De Jonghe Peter  
Nature communications - ISSN 2041-1723-10 (2019)
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Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development
Juneja Manisha   Burns Joshua   Saporta Mario A.   Timmerman Vincent  
Journal of neurology, neurosurgery and psychiatry - ISSN 0022-3050-90:1 (2019) p. 58-67
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Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy
Bernard-Marissal Nathalie   van Hameren Gerben   Juneja Manisha   Pellegrino Christophe   Louhivuori Lauri   Bartesaghi Luca   Rochat Cylia   El Mansour Omar   Medard Jean-Jacques   Croisier Marie   Maclachlan Catherine   Poirot Olivier   Uhlen Per   Timmerman Vincent   Tricaud Nicolas   Schneider Bernard L.   Chrast Roman  
Proceedings of the National Academy of Sciences of the United States of America - ISSN 0027-8424-116:6 (2019) p. 2328-2337
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