Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report

Alteration of cortical excitability and its modulation by Miglustat in Niemann-Pick disease type C

(2018) Shady Safwat Hassan et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Centre-surround organization of fast sensorimotor integration in human motor hand area

(2017) Raffaele Dubbioso et al.   NEUROIMAGE

Disruption of GABA(A)-mediated intracortical inhibition in patients with chorea-acanthocytosis

(2017) Raffaele Dubbioso et al.   NEUROSCIENCE LETTERS

Cognitive impairment profile in adult patients with Niemann pick type C disease

(2017) Camille Heitz et al.   Orphanet Journal of Rare Diseases

Subclinical neurological involvement does not develop if Wilson's disease is treated early

(2016) Raffaele Dubbioso et al.   PARKINSONISM & RELATED DISORDERS

The Effect of Cerebellar Degeneration on Human Sensori-motor Plasticity

(2015) Raffaele Dubbioso et al.   Brain Stimulation

Electrophysiological characterization of adult-onset Niemann–Pick type C disease

(2015) Rosa Iodice et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

(2015) Simona Fecarotta et al.   Orphanet Journal of Rare Diseases

Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer’s disease?

(2014) Fiore Manganelli et al.   JOURNAL OF NEUROLOGY

Phenotypic heterogeneity of Niemann–Pick disease type C in monozygotic twins

(2014) Alberto Benussi et al.   JOURNAL OF NEUROLOGY

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

(2012) Marc C. Patterson et al.   MOLECULAR GENETICS AND METABOLISM

Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy

(2011) Raffaele Dubbioso et al.   JOURNAL OF NEUROLOGY

Electrophysiological characterisation in hereditary spastic paraplegia type 5

(2010) Fiore Manganelli et al.   CLINICAL NEUROPHYSIOLOGY