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List of works by Carlos Casasnovas

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

scientific article published on 18 December 2019

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

scientific article published on 15 August 2020

A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype

scientific article published on 01 January 2012

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.

scientific article published on 2 January 2016

Causes of neuropathy in patients referred as "Idiopathic neuropathy".

scientific article

Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia

scientific article published on 16 November 2014

Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene

scientific article published on 01 August 2010

Charcot-Marie-tooth disease

scientific article published on 22 October 2008

Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population

scientific article published on 01 December 2006

Clinical and serological features of acute sensory ataxic neuropathy with antiganglioside antibodies

scientific article published on 01 June 2012

Clinical study of 39 patients with atypical lacunar syndrome.

scientific article

Diagnosis of Charcot-Marie-Tooth disease.

scientific article published on 08 October 2009

Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease

scientific article published on 23 June 2011

Guillain-Barré syndrome following the 2009 pandemic monovalent and seasonal trivalent influenza vaccination campaigns in Spain from 2009 to 2011: outcomes from active surveillance by a neurologist network, and records from a country-wide [...]

scientific article

Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy.

scientific article published on 8 September 2015

Long-term outcome in chronic inflammatory demyelinating polyneuropathy patients treated with intravenous immunoglobulin: a retrospective study.

scientific article published on 11 September 2013

Monofocal motor neuropathy with conduction block associated with adalimumab in rheumatoid arthritis

scientific article published on 15 June 2011

MuSK autoantibodies in myasthenia gravis detected by cell based assay--A multinational study.

scientific article

Musk-antibody positive myasthenia gravis presenting with isolated neck extensor weakness

scientific article published on 29 May 2007

Myasthenia gravis exacerbation after cetirizine administration

scientific article published on 01 July 2011

Myasthenia gravis exacerbation after melatonin administration: case series from a tertiary referral centre

scientific article published on 04 November 2020

Neurological picture. Multifocal acquired demyelinating sensory and motor neuropathy presenting as idiopathic hypertrophic brachial neuropathy

scientific article published on 01 June 2009

Numb chin syndrome as an early symptom of primary and secondary vasculitis

scientific article published on 06 May 2011

Observational study of patients in Spain with amyotrophic lateral sclerosis: correlations between clinical status, quality of life, and dignity

scientific article published on 19 December 2017

Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients

scientific article

Sequential heart and liver transplantation for familial amyloid polyneuropathy

scientific article published on 20 December 2013

Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

scientific article published on 01 April 2011

Titin antibodies in "seronegative" myasthenia gravis--A new role for an old antigen.

scientific article published on 27 January 2016

Transthyretin stabilization activity of the catechol--methyltransferase inhibitor tolcapone (SOM0226) in hereditary ATTR amyloidosis patients and asymptomatic carriers: proof-of-concept study

scientific article published on 23 May 2019

Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings.

scientific article

VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis

scientific article

Very early electrodiagnostic findings in Guillain-Barré syndrome

scientific article published on 01 June 2011

[Cerebral venous thrombosis as the presenting symptom of systemic lupus erythematosus]

scientific article published on 01 July 2004

[Recommendations regarding diagnosis and treatment of transthyretin familial amyloid polyneuropathy.Grupo de Estudio y Tratamiento de la Polineuropatía Amiloidótica Familiar por Transtiretina (GETPAF-TTR)]

scientific article published on 24 March 2015