Lista de obras - Carlos Casasnovas - Dominio Público Uruguay

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

artículo científico publicado en 2019

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Charcot-Marie-tooth disease

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 2012

Clinical study of 39 patients with atypical lacunar syndrome.

artículo científico publicado en 2006

Diagnosis of Charcot-Marie-Tooth disease.

scientific article published on 08 October 2009

Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease

artículo científico publicado en 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 [...]

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2007

Myasthenia gravis exacerbation after cetirizine administration

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Sequential heart and liver transplantation for familial amyloid polyneuropathy

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

Very early electrodiagnostic findings in Guillain-Barré syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 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

Lista de obras de Carlos Casasnovas

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

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

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

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

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

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

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

Charcot-Marie-tooth disease

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

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

Clinical study of 39 patients with atypical lacunar syndrome.

Diagnosis of Charcot-Marie-Tooth disease.

Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease

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 [...]

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

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

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

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

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

Myasthenia gravis exacerbation after cetirizine administration

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

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

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

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

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

Sequential heart and liver transplantation for familial amyloid polyneuropathy

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

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

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

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

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

Very early electrodiagnostic findings in Guillain-Barré syndrome

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

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