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NEUROGENETICS
Rivista
Codice:
E117241
ISSN:
1364-6745
Dati Generali
Dati Generali
Pubblicazioni (16)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs.
Articolo
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations
Articolo
Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism
Articolo
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset
Articolo
Confirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohort.
Articolo
Convulsive disorder and genetic polymorphism. Association of idiopathic generalized epilepsy with haptoglobin polymorphism.
Articolo
Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts
Articolo
Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.
Articolo
Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations
Articolo
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.
Articolo
Natural history of neurofibromatosis type 2 with onset before the age of 1 year
Articolo
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
Articolo
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation
Articolo
Shorter telomeres in patients with cerebral autosomal dominant arteriopathy and leukoencephalopathy (CADASIL)
Articolo
Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification,
Articolo
Splicing: is there an alternative contribution to Parkinson's disease?
Articolo
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