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Bi-allelic variants in SPATA5L1 lead to intellectual disabi..:

Richard, E. M ; Bakhtiari, S ; Marsh, A. P. L...
https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(21)00302-5. , 2021

Link: https://doi.org/10.1016/j.ajhg.2021.08.003

RT Journal
T1 <Title>Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftrde:oai:rde.dspace-express.com:11287_622267&Exemplar=1&LAN=DE
				
A1 Richard, E. M
A1 Bakhtiari, S
A1 Marsh, A. P. L
A1 Kaiyrzhanov, R
A1 Wagner, M
A1 Shetty, S
A1 Pagnozzi, A
A1 Nordlie, S. M
A1 Guida, B. S
A1 Cornejo, P
A1 Magee, H
A1 Liu, J
A1 Norton, B. Y
A1 Webster, R. I
A1 Worgan, L
A1 Hakonarson, H
A1 Li, J
A1 Guo, Y
A1 Jain, M
A1 Blesson, A
A1 Rodan, L. H
A1 Abbott, M. A
A1 Comi, A
A1 Cohen, J. S
A1 Alhaddad, B
A1 Meitinger, T
A1 Lenz, D
A1 Ziegler, A
A1 Kotzaeridou, U
A1 Brunet, T
A1 Chassevent, A
A1 Smith-Hicks, C
A1 Ekstein, J
A1 Weiden, T
A1 Hahn, A
A1 Zharkinbekova, N
A1 Turnpenny, P
A1 Tucci, A
A1 Yelton, M
A1 Horvath, R
A1 Gungor, S
A1 Hiz, S
A1 Oktay, Y
A1 Lochmuller, H
A1 Zollino, M
A1 Morleo, M
A1 Marangi, G
A1 Nigro, V
A1 Torella, A
A1 Pinelli, M
A1 Amenta, S
A1 Husain, R. A
A1 Grossmann, B
A1 Rapp, M
A1 Steen, C
A1 Marquardt, I
A1 Grimmel, M
A1 Grasshoff, U
A1 Korenke, G. C
A1 Owczarek-Lipska, M
A1 Neidhardt, J
A1 Radio, F. C
A1 Mancini, C
A1 Claps Sepulveda, D. J
A1 McWalter, K
A1 Begtrup, A
A1 Crunk, A
A1 Guillen Sacoto, M. J
A1 Person, R
A1 Schnur, R. E
A1 Mancardi, M. M
A1 Kreuder, F
A1 Striano, P
A1 Zara, F
A1 Chung, W. K
A1 Marks, W. A
A1 van Eyk, C. L
A1 Webber, D. L
A1 Corbett, M. A
A1 Harper, K
A1 Berry, J. G
A1 MacLennan, A. H
A1 Gecz, J
A1 Tartaglia, M
A1 Salpietro, V
A1 Christodoulou, J
A1 Kaslin, J
A1 Padilla-Lopez, S
A1 Bilguvar, K
A1 Munchau, A
A1 Ahmed, Z. M
A1 Hufnagel, R. B
A1 Fahey, M. C
A1 Maroofian, R
A1 Houlden, H
A1 Sticht, H
A1 Mane, S. M
A1 Rad, A
A1 Vona, B
A1 Jin, S. C
A1 Haack, T. B
A1 Makowski, C
A1 Hirsch, Y
A1 Riazuddin, S
A1 Kruer, M. C
PB Cell Press
YR 2021
K1 ATPases Associated with Diverse Cellular Activities/genetics
K1 Adolescent
K1 Adult
K1 Alleles
K1 Animals
K1 Cerebral Palsy/etiology/metabolism/*pathology
K1 Child
K1 Preschool
K1 Epilepsy/etiology/metabolism/*pathology
K1 Female
K1 *Genetic Predisposition to Disease
K1 *Genetic Variation
K1 Hearing Loss/etiology/metabolism/*pathology
K1 Humans
K1 Infant
K1 Newborn
K1 Intellectual Disability/etiology/metabolism/*pathology
K1 Male
K1 Muscle Spasticity/etiology/metabolism/*pathology
K1 Rats
K1 Young Adult
K1 *AAA+ superfamily
K1 *ATPase
K1 *spata5l1
K1 *cerebral palsy
K1 *epilepsy
K1 *intellectual disability
K1 *movement disorder
K1 *neurodevelopmental disorder
K1 *sensorineural hearing loss
JF https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(21)00302-5
LK http://dx.doi.org/https://doi.org/10.1016/j.ajhg.2021.08.003
DO https://doi.org/10.1016/j.ajhg.2021.08.003
SF ELIB - SuUB Bremen

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