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1 Ergebnisse
1
Pathogenic DPAGT1 variants in limb‐girdle congenital myasth..:
vanden Brande, Laura
;
Bauché, Stéphanie
;
Pérez‐Guàrdia, Laura
...
Neuropathology and Applied Neurobiology. 50 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1111/nan.12952
RT Journal T1
Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_nan.12952&Exemplar=1&LAN=DE A1 vanden Brande, Laura A1 Bauché, Stéphanie A1 Pérez‐Guàrdia, Laura A1 Sternberg, Damien A1 Seferian, Andreea M. A1 Malfatti, Edoardo A1 Silva‐Rojas, Roberto A1 Labasse, Clémence A1 Chevessier, Frédéric A1 Carlier, Pierre A1 Eymard, Bruno A1 Romero, Norma B. A1 Laporte, Jocelyn A1 Servais, Laurent A1 Gidaro, Teresa A1 Böhm, Johann PB Wiley YR 2024 SN 0305-1846 SN 1365-2990 JF Neuropathology and Applied Neurobiology VO 50 IS 1 LK http://dx.doi.org/https://doi.org/10.1111/nan.12952 DO https://doi.org/10.1111/nan.12952 SF ELIB - SuUB Bremen
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