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UnknownSliding of HIV-1 reverse transcriptase over DNA creates a transient P pocket - targeting P-pocket by fragment screening.
Not available
S-EPMC8654897 | biostudies-literature
UnknownDe novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.
Not available
S-EPMC6189112 | biostudies-literature
UnknownDe novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
Not available
S-EPMC1226119 | biostudies-literature
UnknownDe Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Not available
S-EPMC9232883 | biostudies-literature
UnknownFirst de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.
Not available
S-EPMC4557545 | biostudies-literature
UnknownDe novo SCN1A mutations in migrating partial seizures of infancy.
Not available
S-EPMC3140798 | biostudies-literature
UnknownUniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias.
Not available
S-EPMC5441426 | biostudies-literature
UnknownDe novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
Not available
S-EPMC4185114 | biostudies-literature
UnknownDe novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Not available
S-EPMC9166542 | biostudies-literature
UnknownAgeing Signatures and Disturbed Muscle Regeneration in Muscle Proteome of Inclusion Body Myositis.
Not available
S-EPMC12146582 | biostudies-literature
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