Zobrazeno 1 - 3
of 3
pro vyhledávání: '"CCT, Central conduction time"'
Publikováno v:
eNeurologicalSci
eNeurologicalSci, Vol 22, Iss, Pp 100298-(2021)
eNeurologicalSci, Vol 22, Iss, Pp 100298-(2021)
Background Angelman syndrome (AS) is neurodevelopmental disorder, causal gene of which is maternally expressed UBE3A. A majority of patients results from the large deletion of relevant chromosome which includes GABAA receptor subunit genes (GABARs) a
Autor:
Aurora Lopez-Rosas, Ludovico Cantuti Castelvetri, Benjamin Smith, Ernesto R. Bongarzone, Francesca Galbiati, Maria I. Givogri
Publikováno v:
ASN Neuro, Vol 3 (2011)
ASN NEURO
ASN NEURO
Infantile Krabbe disease results in the accumulation of lipid-raft-associated galactosylsphingosine (psychosine), demyelination, neurodegeneration and premature death. Recently, axonopathy has been depicted as a contributing factor in the progression
Autor:
Egawa K; Department of Pediatrics, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo 060-8638, Japan., Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-cho, Mizuho -ku, Nagoya 467-8601, Japan., Asahina N; Department of Pediatrics, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo 060-8638, Japan., Shiraishi H; Department of Pediatrics, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo 060-8638, Japan.
Publikováno v:
ENeurologicalSci [eNeurologicalSci] 2020 Dec 01; Vol. 22, pp. 100298. Date of Electronic Publication: 2020 Dec 01 (Print Publication: 2021).