about
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.Longitudinally extensive transverse myelitis with AQP4 antibodies revealing ovarian teratoma.The role of DNAJB2 in amyotrophic lateral sclerosis.Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying mutationsEmbolism and impaired washout: A possible explanation of border zone strokes in hypereosinophilic syndrome[Carotid angioplasty in stenosis following radiotherapy: a review of 12 cases]Clinical spectrum of BICD2 mutationsA very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4Facial onset sensory and motor neuronopathy: a motor neuron disease with an oligogenic origin?
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description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Marina Frasquet
@ast
Marina Frasquet
@en
Marina Frasquet
@es
Marina Frasquet
@nl
Marina Frasquet
@sl
type
label
Marina Frasquet
@ast
Marina Frasquet
@en
Marina Frasquet
@es
Marina Frasquet
@nl
Marina Frasquet
@sl
prefLabel
Marina Frasquet
@ast
Marina Frasquet
@en
Marina Frasquet
@es
Marina Frasquet
@nl
Marina Frasquet
@sl
P106
P21
P31
P496
0000-0001-7206-5362