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Marina Frasquet

Instituto Politécnico Nacional

18

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125

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Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center

2021 Annals of clinical and translational neurology
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Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.

2021 European Journal of Neurology
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The clinical spectrum of BICD2 mutations

2020 European Journal of Neurology
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A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging.

2020 European Journal of Neurology
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Early Referral to an ALS Center Reduces Several Months the Diagnostic Delay: A Multicenter-Based Study

2020 Frontiers in Neurology
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Antibodies against nodo-paranodal proteins are not present in genetic neuropathies

2020 Neurology
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Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex.

2020 European Journal of Neurology
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Clinical, genetic and disability profile of pediatric distal hereditary motor neuropathy.

2020 Neurology
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Facial onset sensory and motor neuronopathy: a motor neuron disease with an oligogenic origin?

2019 Amyotrophic Lateral Sclerosis
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A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4

2019 Journal of the Neurological Sciences
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