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Intermediate Charcot–Marie–Tooth disease: an electrophysiological reappraisal and systematic review

Journal of neurology, 2017-08, Vol.264 (8), p.1655-1677

2017

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A unicenter, prospective study of Guillain‐Barré syndrome in Spain

Acta neurologica Scandinavica, 2019-06, Vol.139 (6), p.546-554

2019

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Proximal nerve lesions in early Guillain–Barré syndrome: implications for pathogenesis and disease classification

Journal of Neurology, 2017-02, Vol.264 (2), p.221-236

2017

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Clinical characteristics and outcomes of thymoma‐associated myasthenia gravis

European journal of neurology, 2021-06, Vol.28 (6), p.2083-2091

2021

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Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1

Annals of neurology, 2016-12, Vol.80 (6), p.823-833

2016

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Comment on paraparetic Guillain–Barré syndrome: Non‐demyelinating reversible conduction failure restricted to the lower limbs

Muscle & nerve, 2017-03, Vol.55 (3), p.445-446

2017

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Ataxia and Action Myoclonus Related to Novel Mutations in ATP13A2 Gene

Movement disorders clinical practice (Hoboken, N.J.), 2021-08, Vol.8 (6), p.969-971

2021

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Electromyographic tendon reflex recording: An accurate and comfortable method for diagnosis of charcot-marie-tooth disease type 1a

Muscle & nerve, 2015-07, Vol.52 (1), p.39-44

2015

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MFN2 deletion of exons 7 and 8: founder mutation in the UK population

Journal of the peripheral nervous system, 2015-06, Vol.20 (2), p.67-71

2015

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Very early Guillain-Barré syndrome: A clinical-electrophysiological and ultrasonographic study

Clinical neurophysiology practice, 2020-01, Vol.5, p.1-9

2020

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A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia

Neuropathology and applied neurobiology, 2023-04, Vol.49 (2), p.e12892-n/a

2023

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Screening for POLG W748S and A467T mutations in ataxia patients from Spain

Movement disorders, 2012-09, Vol.27 (10), p.1326-1326

2012

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Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

Journal of neurology, neurosurgery and psychiatry, 2017-10, Vol.88 (10), p.846

2017

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Neurological adverse events related to immune-checkpoint inhibitors in Spain: a retrospective cohort study

Lancet neurology, 2023-12, Vol.22 (12), p.1150-1159

2023

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Early axonal Guillain-Barré syndrome with normal peripheral conduction: imaging evidence for changes in proximal nerve segments

Journal of neurology, neurosurgery and psychiatry, 2016-05, Vol.87 (5), p.563-565

2016

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NEFL N98S mutation: another cause of dominant intermediate Charcot–Marie–Tooth disease with heterogeneous early-onset phenotype

Journal of neurology, 2016-02, Vol.263 (2), p.361-369

2016

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Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A

Journal of neurology, neurosurgery and psychiatry, 2017-11, Vol.88 (11), p.941

2017

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NEFL E396K mutation is associated with a novel dominant intermediate Charcot–Marie–Tooth disease phenotype

Journal of neurology, 2015-05, Vol.262 (5), p.1289-1300

2015

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Epidemiological and genetic features of anti-3‑hydroxy-3-methylglutaryl-CoA reductase necrotizing myopathy: Single-center experience and literature review

European journal of internal medicine, 2022-07, Vol.101, p.86-92

2022

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An observational study of asymmetry in CMT1A

Journal of neurology, neurosurgery and psychiatry, 2015-05, Vol.86 (5), p.589-590

2015

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Ultrasonography of cervical nerve roots: cross-sectional reference values according to age

Neurological sciences, 2021, Vol.42 (1), p.215-223

2021

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Evolution of Charcot–Marie–Tooth disease type 1A duplication: a 2-year clinico-electrophysiological and lower-limb muscle MRI longitudinal study

Journal of neurology, 2014-04, Vol.261 (4), p.675-685

2014

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New insights into the pathophysiology of pes cavus in Charcot–Marie–Tooth disease type 1A duplication

Journal of neurology, 2011-09, Vol.258 (9), p.1594-1602

2011

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Intermediate Charcot–Marie–Tooth disease: an electrophysiological reappraisal and systematic review

A unicenter, prospective study of Guillain‐Barré syndrome in Spain

Proximal nerve lesions in early Guillain–Barré syndrome: implications for pathogenesis and disease classification

Clinical characteristics and outcomes of thymoma‐associated myasthenia gravis

Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1

Comment on paraparetic Guillain–Barré syndrome: Non‐demyelinating reversible conduction failure restricted to the lower limbs

Ataxia and Action Myoclonus Related to Novel Mutations in ATP13A2 Gene

Electromyographic tendon reflex recording: An accurate and comfortable method for diagnosis of charcot-marie-tooth disease type 1a

MFN2 deletion of exons 7 and 8: founder mutation in the UK population

Very early Guillain-Barré syndrome: A clinical-electrophysiological and ultrasonographic study

Clinical and therapeutic features of myasthenia gravis in adults based on age at onset

A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia

Screening for POLG W748S and A467T mutations in ataxia patients from Spain

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

Neurological adverse events related to immune-checkpoint inhibitors in Spain: a retrospective cohort study

Early axonal Guillain-Barré syndrome with normal peripheral conduction: imaging evidence for changes in proximal nerve segments

NEFL N98S mutation: another cause of dominant intermediate Charcot–Marie–Tooth disease with heterogeneous early-onset phenotype

Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A

NEFL E396K mutation is associated with a novel dominant intermediate Charcot–Marie–Tooth disease phenotype

Epidemiological and genetic features of anti-3‑hydroxy-3-methylglutaryl-CoA reductase necrotizing myopathy: Single-center experience and literature review

An observational study of asymmetry in CMT1A

Ultrasonography of cervical nerve roots: cross-sectional reference values according to age

Evolution of Charcot–Marie–Tooth disease type 1A duplication: a 2-year clinico-electrophysiological and lower-limb muscle MRI longitudinal study

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

New insights into the pathophysiology of pes cavus in Charcot–Marie–Tooth disease type 1A duplication

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