ANNALS OF NEUROLOGY

Journal

Identifier:

E009444

ISSN:

0364-5134

Overview

Outputs (45)

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

Academic Article

Antiepileptic drugs as a possible neuroprotective strategy in brain ischemia

Academic Article

Calpain 3 deficiency in Quail Eater's disease

Academic Article

Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: An F-18-dopa PET study

Academic Article

Clinical phenotype of pediatric and adult patients with spinal muscular atrophy with four SMN2 copies: are they really all stable?

Academic Article

Clinical variability in spinal muscular atrophy type III

Academic Article

Clinico-genetic characterization of a large italian cohort with primary spastic paraplegia;

Abstract

Coenzyme Q-responsive Leigh's encephalopathy in two sisters

Academic Article

Cortical and spinal abnormalities in psychogenic dystonia

Academic Article

Cortico-pallidal connectivity: lessons from patients with dystonia

Academic Article

Cryptogenetic epilepsy is associated with methylenetetrahydrofolate reductase C677T and A1298C polymorphism in a population-based sample from southern Italy

Academic Article

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

Academic Article

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

Academic Article

De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy

Academic Article

Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency

Academic Article

Disruption of cerebral cortex MET signaling in autism spectrum disorder

Academic Article

Distinguishing the four genetic causes of Jouberts syndrome-related disorders

Academic Article

Dopa-responsive dystonia: A clinical and molecular genetic study

Academic Article

Efficacy of Botulinum Toxin A for Treating Cramps in Diabetic Neuropathy

Academic Article

Endosome Dysregulation in Down Syndrome: A Potential Contributor to Alzheimer Disease Pathology

Review

Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture

Academic Article

Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23

Academic Article

Hemiballism-Hemichorea Associated with Mucopolysaccaridosis Type IIIA.

Abstract

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

Academic Article

Levodopa-induced dyskinesia in Parkinson disease: Current and evolving concepts

Academic Article

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

Academic Article

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

Academic Article

Multiple sclerosis in twins from continental Italy and Sardinia: a nationwide study.

Academic Article

Multiple system atrophy is distinguished from idiopathic Parkinson's disease by the arginine growth hormone stimulation test

Academic Article

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine.

Academic Article

Mutations of mitochondrial DNA polymerase gamma A are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia

Academic Article

Nonsyndromic mental retardation and cryptogenic epilepsy in women with Doublecortin gene mutations

Academic Article

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34

Academic Article

Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data

Academic Article

Osteopontin in Duchenne Muscular Dystrophy

Abstract

PARK6-linked parkinsonism occurs in several European families

Academic Article

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

Academic Article

PINK1 mutations are associated with sporadic early-onset parkinsonism

Academic Article

Pallidal stimulation improves pantothenate kinase-associated neurodegeneration

Academic Article

Peripheral neuropathy in amyotrophic chorea-acanthocytosis.

Academic Article

Phenotype modulators in myophosphorylase deficiency

Academic Article

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

Academic Article

Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene

Academic Article

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

Academic Article

Type I Hyperprolinemia Associated with Epilepsy and Mental Retardation Results from PRODH Gene Mutations in Three Sicilian Children.

Abstract

No Results Found

ANNALS OF NEUROLOGY

Overview

Outputs (45)