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List of works by Claudia Ciano

A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome

scientific article published in October 2008

A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.

scientific article published on 16 December 2016

Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy

scientific article published in July 2004

Acute dyspnea due to right phrenic palsy during infusional chemotherapy

scientific article published on 01 April 2004

Adult onset myoclonic Huntington's disease.

scientific article published in April 1993

Amyotrophic lateral sclerosis causes small fiber pathology

scientific article published on 01 February 2016

Celiac disease presenting with motor neuropathy: Effect of gluten free-diet

scientific article published on 01 May 2007

Characterization of severe action myoclonus in sialidoses

scientific article published on 16 February 2011

Charcot-Marie-Tooth disease type 2 and P0 gene mutations

scientific article published on 01 March 1999

Childhood onset of acquired neuromyotonia: association with a ganglioneuroma.

scientific article

Childhood-onset multifocal motor neuropathy with conduction blocks

scientific article published on 01 March 2006

Chronic inflammatory demyelinating polyradiculoneuropathy: long-term course and treatment of 60 patients

scientific article published on 01 February 2000

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

scientific article published on 14 October 2010

Coexistence of Charcot-Marie-Tooth disease type 1A and anti-MAG neuropathy

scientific article published in June 2013

Combined central and peripheral acute demyelination

scientific article published in January 1993

Cortical myoclonus in childhood and juvenile onset Huntington's disease

scientific article published on 10 April 2012

Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation

scientific article

Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy.

scientific article published in December 1998

Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins?

scientific article published on 01 May 2003

Double-trouble in pediatric neurology: Myotonia congenita combined with charcot-marie-tooth disease type 1a

scientific article published on 05 May 2014

Erythropoietin in amyotrophic lateral sclerosis: a pilot, randomized, double-blind, placebo-controlled study of safety and tolerability

scientific article

Exteroceptive reflexes in dystonia: A study of the recovery cycle of the R2 component of the blink reflex and of the exteroceptive suppression of the contracting sternocleidomastoid muscle in blepharospasm and torticollis

scientific article published on 01 March 1994

Giant SEPs and SEP-recovery function in Unverricht–Lundborg disease

scientific article published on 29 December 2012

HMSN III phenotype due to homozygous expression of a dominant HMSN II gene

article

Hand function assessment in the first years of life in unilateral cerebral palsy: Correlation with neuroimaging and cortico-spinal reorganization.

scientific article published on 25 September 2015

Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy

scientific article published on 01 March 2017

Heterozygous Null Mutation in the P 0 Gene Associated with Mild Charcot-Marie-Tooth Disease

article

High-frequency rhythmic cortical myoclonus in a long-surviving patient with nonketotic hypergylcemia

scientific article published on 8 January 2008

Hypo- and hypersensitivity to vecuronium in a patient with Guillain-Barré syndrome

scientific article published on 01 January 1994

Immunotherapy responsive startle with antibodies to voltage gated potassium channels

scientific article

Immunotherapy responsive startle with antibodies to voltage gated potassium channels

Intrathecal immune activation in three patients with progressive myoclonic ataxia

scientific article published on 01 March 1995

Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann–Sträussler–Scheinker disease Pro102Leu

scientific article published on 16 December 2010

Monomelic amyotrophy in cervical myelopathy associated with anterior dural sac displacement induced by neck flexion

scientific article published on 05 March 2016

Movement-activated myoclonus in genetically defined progressive myoclonic epilepsies: EEG–EMG relationship estimated using autoregressive models

article

Movement-related desynchronization-synchronization (ERD/ERS) in patients with Unverricht-Lundborg disease.

scientific article published on 10 August 2006

Mutational mechanisms inMFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations

scientific article published on 01 December 2015

Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient

scientific article

Myoclonus in corticobasal degeneration

scientific article published in July 1997

Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

scientific article published on 01 January 2008

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.

scientific article

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

scientific article published on 15 May 2014

Painful neuropathy in subclinical hypothyroidism: clinical and neuropathological recovery after hormone replacement therapy

scientific article published on 13 February 2009

Peripheral nerve conduction velocity in normal infants and children

scientific article published on 01 June 1989

Phenomenology of psychogenic movement disorders in children

scientific article

Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion

scientific article published on 01 April 1996

Polymyography in the diagnosis of childhood onset movement disorders

scientific article published on 20 February 2008

Progressive dysarthria: definition and clinical follow-up

scientific article published on 01 October 2003

Rhythmic cortical myoclonus in Niemann-Pick disease type C.

scientific article published in September 2006

Rhythmic cortical myoclonus in a case of HIV-related encephalopathy

scientific article

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).

scientific article published on 27 May 2016

Sensorimotor cortex excitability in Unverricht-Lundborg disease and Lafora body disease

scientific article published on 01 December 2004

Sequential antibodies to potassium channels and glutamic acid decarboxylase in neuromyotonia.

scientific article published in April 2005

Serial evoked potentials in multiple sclerosis bouts. Relation to steroid treatment

scientific article published on 01 October 1994

Short and long interval cortical inhibition in patients with Unverricht-Lundborg and Lafora body disease

scientific article published in February 2010

Sleep-related tongue biting may not be a sign of epilepsy: a case of sleep-related faciomandibular myoclonus

scientific article published in January 2009

Spasmodic dystonic laterocollis in familial cerebellar ataxia

scientific article

Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation

article

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.

scientific article published on 21 July 2012

Surface-EMG analysis of rectus femoris in patients with spastic hemiparesis undergoing rehabilitation treatment

scientific article published on 01 March 1991

The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome

scientific article

Unexpected Right Phrenic Nerve Injury During 5-Fluorouracil Continuous Infusion Plus Cisplatin and Vinorelbine in Breast Cancer Patients

scientific article published on 01 May 2000

X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation

scientific article

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