Barbara Castellotti

Ontology type: schema:Person     

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Publications in SciGraph latest 50 shown

  • 2018-10 Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy in NEUROTHERAPEUTICS
  • 2018-08 Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+ Channel Gating in MOLECULAR NEUROBIOLOGY
  • 2016-11 ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-09 NEK1 variants confer susceptibility to amyotrophic lateral sclerosis in NATURE GENETICS
  • 2015-12 Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report in BMC PEDIATRICS
  • 2015-05 TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations in JOURNAL OF NEUROLOGY
  • 2013-11 Granny trips down: is she carrying the big bad wolf? in NEUROLOGICAL SCIENCES
  • 2012-12 Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms in ORPHANET JOURNAL OF RARE DISEASES
  • 2012-12 Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect in NEUROLOGICAL SCIENCES
  • 2011-08 Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients in NEUROGENETICS
  • 2010-04 Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 in NATURE GENETICS
  • 2008-02 Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis in NEUROGENETICS
  • 2007-11 Frataxin gene point mutations in Italian Friedreich ataxia patients in NEUROGENETICS
  • 2004-07 Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPAgene in Italian families in NEUROLOGICAL SCIENCES
  • 1999-05 Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes in JOURNAL OF NEUROLOGY
  • 1998-12 Clinical and genetic study of a family with spinocerebellar ataxia type 1 (SCA1) and beta-thalassemia in NEUROLOGICAL SCIENCES
  • 1995-09 Kennedy's disease: clinical and molecular study of two Italian families in NEUROLOGICAL SCIENCES
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