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Pubblicazioni
ANNALS OF NEUROLOGY
Rivista
Codice:
E009444
ISSN:
0364-5134
Dati Generali
Dati Generali
Pubblicazioni (45)
Pulisci
Ordina Pubblicazioni:
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decrescente
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders
Articolo
Antiepileptic drugs as a possible neuroprotective strategy in brain ischemia
Articolo
Calpain 3 deficiency in Quail Eater's disease
Articolo
Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: An F-18-dopa PET study
Articolo
Clinical phenotype of pediatric and adult patients with spinal muscular atrophy with four SMN2 copies: are they really all stable?
Articolo
Clinical variability in spinal muscular atrophy type III
Articolo
Clinico-genetic characterization of a large italian cohort with primary spastic paraplegia;
Abstract
Coenzyme Q-responsive Leigh's encephalopathy in two sisters
Articolo
Cortical and spinal abnormalities in psychogenic dystonia
Articolo
Cortico-pallidal connectivity: lessons from patients with dystonia
Articolo
Cryptogenetic epilepsy is associated with methylenetetrahydrofolate reductase C677T and A1298C polymorphism in a population-based sample from southern Italy
Articolo
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Articolo
DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial cervical or upper limb onset
Articolo
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy
Articolo
Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency
Articolo
Disruption of cerebral cortex MET signaling in autism spectrum disorder
Articolo
Distinguishing the four genetic causes of Jouberts syndrome-related disorders
Articolo
Dopa-responsive dystonia: A clinical and molecular genetic study
Articolo
Efficacy of Botulinum Toxin A for Treating Cramps in Diabetic Neuropathy
Articolo
Endosome Dysregulation in Down Syndrome: A Potential Contributor to Alzheimer Disease Pathology
Recensione
Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture
Articolo
Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23
Articolo
Hemiballism-Hemichorea Associated with Mucopolysaccaridosis Type IIIA.
Abstract
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease
Articolo
Levodopa-induced dyskinesia in Parkinson disease: Current and evolving concepts
Articolo
Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy
Articolo
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases
Articolo
Multiple sclerosis in twins from continental Italy and Sardinia: a nationwide study.
Articolo
Multiple system atrophy is distinguished from idiopathic Parkinson's disease by the arginine growth hormone stimulation test
Articolo
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine.
Articolo
Mutations of mitochondrial DNA polymerase gamma A are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
Articolo
Nonsyndromic mental retardation and cryptogenic epilepsy in women with Doublecortin gene mutations
Articolo
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34
Articolo
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data
Articolo
Osteopontin in Duchenne Muscular Dystrophy
Abstract
PARK6-linked parkinsonism occurs in several European families
Articolo
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Articolo
PINK1 mutations are associated with sporadic early-onset parkinsonism
Articolo
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration
Articolo
Peripheral neuropathy in amyotrophic chorea-acanthocytosis.
Articolo
Phenotype modulators in myophosphorylase deficiency
Articolo
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis
Articolo
Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene
Articolo
Syndromic parkinsonism and dementia associated with OPA1 missense mutations
Articolo
Type I Hyperprolinemia Associated with Epilepsy and Mental Retardation Results from PRODH Gene Mutations in Three Sicilian Children.
Abstract
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