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List of works by Marina Frasquet

A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging

scientific article published on 05 November 2020

A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4

scientific article published on 15 May 2019

Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex

scientific article published on 08 September 2020

Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying mutations

scientific article published on 10 November 2018

Clinical spectrum of BICD2 mutations

scientific article published on 13 February 2020

Distal hereditary motor neuropathies: mutation spectrum and genotype-phenotype correlation

scientific article published on 28 December 2020

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

scientific article published on 27 July 2017

Embolism and impaired washout: A possible explanation of border zone strokes in hypereosinophilic syndrome

scientific article published in February 2013

Facial onset sensory and motor neuronopathy: a motor neuron disease with an oligogenic origin?

scientific article published on 20 March 2019

Longitudinally extensive transverse myelitis with AQP4 antibodies revealing ovarian teratoma

scientific article published on 27 July 2013

Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.

scientific article published on 15 April 2016

Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

scientific article published on 7 February 2018

The role of DNAJB2 in amyotrophic lateral sclerosis

scientific article published on 21 June 2016

[Carotid angioplasty in stenosis following radiotherapy: a review of 12 cases]

scientific article published in February 2013

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