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ATP6V0C variants impair vacuolar V-ATPase causing a neurode..:

Mattison, Kari A ; Tossing, Gilles ; Mulroe, Fred...
Mattison , K A , Tossing , G , Mulroe , F , Simmons , C , Butler , K M , Schreiber , A , Alsadah , A , Neilson , D E , Naess , K , Wedell , A , Wredenberg , A , Sorlin , A , McCann , E , Burghel , G J , Menendez , B , Hoganson , G E , Botto , L D , Filloux , F M , Aledo-Serrano , Á , Gil-Nagel , A , Tatton-Brown , K , Verbeek , N E , van Hirtum-Das , M , Breckpot , J , Hammer , T B , Møller , R S , Whitney , A , Douglas , A G L , Kharbanda , M , Brunetti-Pierri , N , Morleo , M , Nigro , V , May , H J , Tao , J X , Argili , E , Sherr , E H , Dobyns , W B , Consortium , G E R , Baines , R A , Warwicker , J , Parker , J A , Banka , S , Campeau , P M & Escayg , A 2022 , ' ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy ' , Brain : a journal of neurology . https://doi.org/10.1093/brain/awac330. , 2022

Link: https://research.manchester.ac.uk/en/publications/fcc4..

RT Journal
T1 <Title>ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftumanchesterpub:oai:pure.atira.dk:publications_fcc43c2c-f5fa-476a-a4bb-c96e65a48d3d&Exemplar=1&LAN=DE
				
A1 Mattison, Kari A
A1 Tossing, Gilles
A1 Mulroe, Fred
A1 Simmons, Callum
A1 Butler, Kameryn M
A1 Schreiber, Alison
A1 Alsadah, Adnan
A1 Neilson, Derek E
A1 Naess, Karin
A1 Wedell, Anna
A1 Wredenberg, Anna
A1 Sorlin, Arthur
A1 McCann, Emma
A1 Burghel, George J
A1 Menendez, Beatriz
A1 Hoganson, George E
A1 Botto, Lorenzo D
A1 Filloux, Francis M
A1 Aledo-Serrano, Ángel
A1 Gil-Nagel, Antonio
A1 Tatton-Brown, Katrina
A1 Verbeek, Nienke E
A1 van Hirtum-Das, Michele
A1 Breckpot, Jeroen
A1 Hammer, Trine Bjørg
A1 Møller, Rikke S
A1 Whitney, Andrea
A1 Douglas, Andrew G L
A1 Kharbanda, Mira
A1 Brunetti-Pierri, Nicola
A1 Morleo, Manuela
A1 Nigro, Vincenzo
A1 May, Halie J
A1 Tao, James X
A1 Argili, Emanuela
A1 Sherr, Elliot H
A1 Dobyns, William B
A1 Consortium, Genomics England Research
A1 Baines, Richard A
A1 Warwicker, Jim
A1 Parker, J Alex
A1 Banka, Siddharth
A1 Campeau, Philippe M
A1 Escayg, Andrew
YR 2022
K1 V-ATPase
K1 ATP6V0C
K1 VMA3
K1 epilepsy genetics
K1 neurodevelopmental disorders
JF Mattison , K A , Tossing , G , Mulroe , F , Simmons , C , Butler , K M , Schreiber , A , Alsadah , A , Neilson , D E , Naess , K , Wedell , A , Wredenberg , A , Sorlin , A , McCann , E , Burghel , G J , Menendez , B , Hoganson , G E , Botto , L D , Filloux , F M , Aledo-Serrano , Á , Gil-Nagel , A , Tatton-Brown , K , Verbeek , N E , van Hirtum-Das , M , Breckpot , J , Hammer , T B , Møller , R S , Whitney , A , Douglas , A G L , Kharbanda , M , Brunetti-Pierri , N , Morleo , M , Nigro , V , May , H J , Tao , J X , Argili , E , Sherr , E H , Dobyns , W B , Consortium , G E R , Baines , R A , Warwicker , J , Parker , J A , Banka , S , Campeau , P M & Escayg , A 2022 , ' ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy ' , Brain : a journal of neurology . https://doi.org/10.1093/brain/awac330
LK http://dx.doi.org/https://research.manchester.ac.uk/en/publications/fcc43c2c-f5fa-476a-a4bb-c96e65a48d3d
DO https://research.manchester.ac.uk/en/publications/fcc43c2c-f5fa-476a-a4bb-c96e65a48d3d
SF ELIB - SuUB Bremen

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