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An ancestral 10-bp repeat expansion in VWA1 causes recessiv..:
Pagnamenta, Alistair T
;
Kaiyrzhanov, Rauan
;
Zou, Yaqun
...
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/33559681/. , 2021
Link:
https://doi.org/10.1093/brain/awaa420
RT Journal T1
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy
UL https://suche.suub.uni-bremen.de/peid=base-ftrde:oai:rde.dspace-express.com:11287_621844&Exemplar=1&LAN=DE A1 Pagnamenta, Alistair T A1 Kaiyrzhanov, Rauan A1 Zou, Yaqun A1 Da'as, Sahar I A1 Maroofian, Reza A1 Donkervoort, Sandra A1 Dominik, Natalia A1 Lauffer, Marlen A1 Ferla, Matteo P A1 Orioli, Andrea A1 Giess, Adam A1 Tucci, Arianna A1 Beetz, Christian A1 Sedghi, Maryam A1 Ansari, Behnaz A1 Barresi, Rita A1 Basiri, Keivan A1 Cortese, Andrea A1 Elgar, Greg A1 Fernandez-Garcia, Miguel A A1 Yip, Janice A1 Foley, A. Reghan A1 Gutowski, Nicholas A1 Jungbluth, Heinz A1 Lassche, Saskia A1 Lavin, Tim A1 Marcelis, Carlo A1 Marks, Peter A1 Marini-Bettolo, Chiara A1 Medne, Livija A1 Moslemi, Ali-Reza A1 Sarkozy, Anna A1 Reilly, Mary M A1 Muntoni, Francesco A1 Millan, Francisca A1 Muraresku, Colleen C A1 Need, Anna C A1 Nemeth, Andrea H A1 Neuhaus, Sarah B A1 Norwood, Fiona A1 O'Donnell, Marie A1 O'Driscoll, Mary A1 Rankin, Julia A1 Yum, Sabrina W A1 Zolkipli-Cunningham, Zarazuela A1 Brusius, Isabell A1 Wunderlich, Gilbert A1 Karakaya, Mert A1 Wirth, Brunhilde A1 Fakhro, Khalid A A1 Tajsharghi, Homa A1 Bönnemann, Carsten G A1 Taylor, Jenny C A1 Houlden, Henry PB Oxford University Press YR 2021 K1 Child K1 Humans K1 Adult K1 Aged K1 Female K1 Male K1 Middle Aged K1 Mutation K1 Young Adult K1 Animals K1 Zebrafish K1 *EMG K1 *genetics: neuropathy K1 *hereditary motor and sensory neuropathies K1 *nerve conduction studies K1 *whole-genome sequencing K1 Behavior K1 Animal/physiology K1 Extracellular Matrix Proteins/*genetics K1 Hereditary Sensory and Motor Neuropathy/*genetics/pathology K1 Muscle K1 Skeletal/pathology K1 Pedigree JF https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/33559681/ LK http://dx.doi.org/https://doi.org/10.1093/brain/awaa420 DO https://doi.org/10.1093/brain/awaa420 SF ELIB - SuUB Bremen
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