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European Journal of Neurology
IF
4.39
Papers
6660
Papers 6708
1 page of 671 pages (6,708 results)
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#1Sergio A. Castillo-Torres (Universidad Autónoma de Nuevo León)H-Index: 1
#2Ingrid Estrada Bellmann (Universidad Autónoma de Nuevo León)H-Index: 5
Last.Fernando Góngora-Rivera (Universidad Autónoma de Nuevo León)H-Index: 16
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1 CitationsSource
#1Luca Padua (UCSC: Catholic University of the Sacred Heart)H-Index: 48
#2Isabella ImbimboH-Index: 4
view all 11 authors...
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#1Xiao-Yan Li (ZJU: Zhejiang University)H-Index: 1
#2Hong-Lei Li (ZJU: Zhejiang University)H-Index: 2
Last.Zhi-Ying Wu (ZJU: Zhejiang University)H-Index: 3
view all 10 authors...
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#1Mariana Alves (University of Lisbon)H-Index: 2
#2Daniel Caldeira (University of Lisbon)H-Index: 18
Last.Joaquim J. Ferreira (University of Lisbon)H-Index: 44
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#1Chelban (UCL: University College London)
#2Viorica Chelban (UCL: University College London)H-Index: 5
Last.Kaya NH-Index: 1
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BACKGROUND AND PURPOSE: Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes and a high rate of genetically unsolved cases. Bi‐allelic mutations in NKX6‐2 were recently linked to spastic ataxia 8 with hypomyelinating leukodystrophy. METHODS: Using a combination of homozygosity mapping, exome sequencing, and detailed clinical and neuroimaging assessment a series of new NKX6‐2 mutations in a multicentre setting is described. Then, all r...
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#1Daniel Paech (DKFZ: German Cancer Research Center)H-Index: 13
#2Tristan Anselm Kuder (DKFZ: German Cancer Research Center)H-Index: 13
Last.Kristina Szabo (Heidelberg University)H-Index: 25
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#1David Baker (QMUL: Queen Mary University of London)H-Index: 156
#2Gareth Pryce (QMUL: Queen Mary University of London)H-Index: 40
Last.Gavin Giovannoni (QMUL: Queen Mary University of London)H-Index: 75
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#1Rosanna Piredda (CEU San Pablo University)
#2Philippe DesmaraisH-Index: 3
Last.Carmen Gasca-Salas (CEU San Pablo University)H-Index: 1
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