about
Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.Immunotherapy responsive startle with antibodies to voltage gated potassium channels.Hand function assessment in the first years of life in unilateral cerebral palsy: Correlation with neuroimaging and cortico-spinal reorganization.Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome.Short and long interval cortical inhibition in patients with Unverricht-Lundborg and Lafora body disease.Rhythmic cortical myoclonus in a case of HIV-related encephalopathy.Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.Coexistence of Charcot-Marie-Tooth disease type 1A and anti-MAG neuropathy.Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy.Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.Cortical myoclonus in childhood and juvenile onset Huntington's disease.Adult onset myoclonic Huntington's disease.Sequential antibodies to potassium channels and glutamic acid decarboxylase in neuromyotonia.High-frequency rhythmic cortical myoclonus in a long-surviving patient with nonketotic hypergylcemia.A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.Spasmodic dystonic laterocollis in familial cerebellar ataxia.Combined central and peripheral acute demyelination.Sleep-related tongue biting may not be a sign of epilepsy: a case of sleep-related faciomandibular myoclonus.Movement-related desynchronization-synchronization (ERD/ERS) in patients with Unverricht-Lundborg disease.Rhythmic cortical myoclonus in Niemann-Pick disease type C.Myoclonus in corticobasal degeneration.X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.Phenomenology of psychogenic movement disorders in children.Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene.Characterization of severe action myoclonus in sialidoses.Erythropoietin in amyotrophic lateral sclerosis: a pilot, randomized, double-blind, placebo-controlled study of safety and tolerability.Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.Childhood onset of acquired neuromyotonia: association with a ganglioneuroma.Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy.Mutational mechanisms inMFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutationsSubclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutationMonomelic amyotrophy in cervical myelopathy associated with anterior dural sac displacement induced by neck flexionHereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsyAmyotrophic lateral sclerosis causes small fiber pathologyDouble-trouble in pediatric neurology: Myotonia congenita combined with charcot-marie-tooth disease type 1aGiant SEPs and SEP-recovery function in Unverricht–Lundborg diseaseLower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann–Sträussler–Scheinker disease Pro102Leu
P50
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P50
description
onderzoeker
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researcher ORCID ID = 0000-0001-7347-2517
@en
name
Claudia Ciano
@ast
Claudia Ciano
@en
Claudia Ciano
@es
Claudia Ciano
@nl
type
label
Claudia Ciano
@ast
Claudia Ciano
@en
Claudia Ciano
@es
Claudia Ciano
@nl
prefLabel
Claudia Ciano
@ast
Claudia Ciano
@en
Claudia Ciano
@es
Claudia Ciano
@nl
P1053
L-8856-2016
P106
P1153
6701810669
P21
P31
P496
0000-0001-7347-2517