about
VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis.Clinical study of 39 patients with atypical lacunar syndrome.Diagnosis of Charcot-Marie-Tooth disease.MuSK autoantibodies in myasthenia gravis detected by cell based assay--A multinational study.[Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease].Long-term outcome in chronic inflammatory demyelinating polyneuropathy patients treated with intravenous immunoglobulin: a retrospective study.[Sequential heart and liver transplantation for familial amyloid polyneuropathy].Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings.Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMTClinical and serological features of acute sensory ataxic neuropathy with antiganglioside antibodiesTransthyretin stabilization activity of the catechol--methyltransferase inhibitor tolcapone (SOM0226) in hereditary ATTR amyloidosis patients and asymptomatic carriers: proof-of-concept studyClinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population[Cerebral venous thrombosis as the presenting symptom of systemic lupus erythematosus]Musk-antibody positive myasthenia gravis presenting with isolated neck extensor weaknessA novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotypeNeurological picture. Multifocal acquired demyelinating sensory and motor neuropathy presenting as idiopathic hypertrophic brachial neuropathyNumb chin syndrome as an early symptom of primary and secondary vasculitisMyasthenia gravis exacerbation after cetirizine administrationMonofocal motor neuropathy with conduction block associated with adalimumab in rheumatoid arthritisCharcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ geneVery early electrodiagnostic findings in Guillain-Barré syndromeCharcot-Marie-tooth diseaseCharacterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia[Recommendations regarding diagnosis and treatment of transthyretin familial amyloid polyneuropathy.Grupo de Estudio y Tratamiento de la Polineuropatía Amiloidótica Familiar por Transtiretina (GETPAF-TTR)]
P50
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P50
description
forsker
@nb
researcher ORCID ID = 0000-0002-7933-4681
@en
wetenschapper
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name
C. Casasnovas
@ast
C. Casasnovas
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Carlos Casasnovas
@en
Carlos Casasnovas
@es
Carlos Casasnovas
@nb
type
label
C. Casasnovas
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C. Casasnovas
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Carlos Casasnovas
@en
Carlos Casasnovas
@es
Carlos Casasnovas
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altLabel
C. Casasnovas
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prefLabel
C. Casasnovas
@ast
C. Casasnovas
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Carlos Casasnovas
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Carlos Casasnovas
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Carlos Casasnovas
@nb
P106
P1153
55995300800
P31
P496
0000-0002-7933-4681