Refreshing results…
A novel homozygous VPS11 variant may cause generalized dystonia
Download from onlinelibrary.wiley.comA case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation
Download from doi.orgComplex genomic alterations and intellectual disability: an interpretative challenge
Download from onlinelibrary.wiley.comLeukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
Download from onlinelibrary.wiley.comLate-onset leukoencephalopathy in a patient with recessive EARS2 mutations
Download from doi.orgSLC25A46 mutations in patients with Parkinson's Disease and optic atrophy
UploadDystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency
Download from api.wiley.comChildhood onset dystonia with cerebellar signs: expanding the spectrum of GNAL mutations
Download from api.wiley.comNeurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy
UploadA de novo C19orf12 heterozygous mutation in a patient with MPAN
Download from air.unimi.itHallucinations in Neurological Disorders
UploadMissing publications? Search for publications with a matching author name.