A. Pelayo-Negro

发表

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

S. Scherer, D. Pareyson, M. Shy, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK

M. Reilly, P. Hawkins, A. Carr, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

From ileostomy to sudden quadriplegia with electrocardiographic abnormalities: a short and unfortunate path

J. Berciano, A. Pelayo-Negro, M. Delgado-Alvarado, 2013, Neurological Sciences.

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

T. Beißbarth, B. Schlotter-Weigel, A. Leha, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

C. Horlings, R. Carlier, E. Ricci, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

A. L. de Munain, R. Rojas-García, R. Sivera, 2017, Scientific Reports.

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

E. Gallardo, J. Infante, P. Sánchez-Juan, 2014, Journal of Neurology.

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

J. Berciano, A. Pelayo-Negro, Antonio G. García, 2015, Muscle & nerve.

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

G. Ravenscroft, N. Laing, C. Paradas, 2019, Acta Neuropathologica Communications.

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

H. Houlden, J. Rankin, M. Sweeney, 2015, Journal of the peripheral nervous system.

Ataxia and Action Myoclonus Related to Novel Mutations in ATP13A2 Gene

J. Infante, A. Pelayo-Negro, Marc Corral-Juan, 2021, Movement disorders clinical practice.

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

E. Gallardo, M. Berciano, J. Berciano, 2017, Journal of Neurology.

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

E. Gallardo, J. Infante, P. Sánchez-Juan, 2019, Acta neurologica Scandinavica.

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

E. Gallardo, J. Infante, A. Jordanova, 2015, Journal of Neurology.

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

B. Menten, E. Gallardo, V. Timmerman, 2016, Annals of neurology.

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

E. Gallardo, J. Berciano, A. Pelayo-Negro, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

Overview of treatments used in transthyretin-related hereditary amyloidosis: a systematic review.

A. Pelayo-Negro, M. Valero Domínguez, Héctor Cristóbal Gutiérrez, 2019, European journal of hospital pharmacy : science and practice.

Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy

J. Holton, S. Brandner, M. Reilly, 2015, Neuromuscular Disorders.

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

E. Gallardo, V. Timmerman, J. Infante, 2016, Annals of neurology.

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

R. Rojas-García, J. Díaz-Manera, A. Pelayo-Negro, 2020, Neurology.

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

A. López de Munain, C. Paradas, I. Jericó, 2020, Neurology.

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

O. Combarros, E. Gallardo, J. Infante, 2011, Journal of Neurology.

Charcot-Marie-Tooth disease: a review with emphasis on the pathophysiology of pes cavus

O. Combarros, E. Gallardo, J. Infante, 2011 .

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

A. L. de Munain, R. Rojas-García, R. Sivera, 2017, Scientific Reports.

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients

T. Beißbarth, B. Schlotter-Weigel, A. Leha, 2014, Neuromuscular Disorders.

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

E. Gallardo, J. Infante, A. Jordanova, 2017, Journal of Neurology.

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

M. Zeviani, M. Rodriguez-Oroz, V. Volpini, 2012, Movement disorders : official journal of the Movement Disorder Society.

Clinical characteristics and outcomes of thymoma‐associated myasthenia gravis

A. López de Munain, C. Paradas, I. Jericó, 2021, European journal of neurology.

Drug‐refractory myasthenia gravis: Clinical characteristics, treatments, and outcome

A. López de Munain, C. Paradas, I. Jericó, 2022, Annals of clinical and translational neurology.

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

G. Ravenscroft, N. Laing, C. Paradas, 2019, Acta neuropathologica communications.

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

T. López-Alburquerque, E. Gallardo, J. Infante, 2016, Journal of Neurology.

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

E. Gallardo, J. Berciano, A. Pelayo-Negro, 2020, Neurological Sciences.

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

M. López-Hoyos, A. Pelayo-Negro, S. Remuzgo-Martínez, 2022, European journal of internal medicine.

[Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease].

J. Infante, R. Sivera, I. Illa, 2012, Neurologia.

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

E. Gallardo, J. Infante, P. Sánchez-Juan, 2019, Clinical neurophysiology practice.

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

E. Gallardo, J. Berciano, A. Pelayo-Negro, 2017, Muscle & nerve.

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

M. Sobrido, J. García-García, A. Pelayo-Negro, 2018, Journal of Medical Genetics.

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

M. Sepúlveda, S. Llufriu, C. Díaz-Pedroche, 2023, The Lancet Neurology.

This item is the archived peer-reviewed author-version of: Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1 Reference:

B. Menten, E. Gallardo, J. Infante, 2017 .