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Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation

European journal of neurology, 2021-04, Vol.28 (4), p.1334-1343

2021

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Insights into phenotypic variability caused by GARS1 pathogenic variants

European journal of neurology, 2024-10, Vol.31 (10), p.e16416-n/a

2024

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Charcot–Marie–Tooth disease due to MORC2 mutations in Spain

European journal of neurology, 2021-09, Vol.28 (9), p.3001-3011

2021

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Urodynamic findings in amyotrophic lateral sclerosis patients with lower urinary tract symptoms: Results from a pilot study

Neurourology and urodynamics, 2017-03, Vol.36 (3), p.626-631

2017

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Risdiplam in non‐sitter patients aged 16 years and older with 5q spinal muscular atrophy

Muscle & nerve, 2023-05, Vol.67 (5), p.407-411

2023

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

Annals of clinical and translational neurology, 2021-09, Vol.8 (9), p.1809-1816

2021

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Happiness Management»: Revisión de literatura científica en el marco de la felicidad en el trabajo

Retos, 2019-10, Vol.9 (18), p.259-271

2019

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Neurodegeneration Biomarkers in Adult Spinal Muscular Atrophy (SMA) Patients Treated with Nusinersen

International journal of molecular sciences, 2024-04, Vol.25 (7), p.3810

2024

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The first otologic surgery in a skull from El Pendón site (Reinoso, Northern Spain)

Scientific reports, 2022-02, Vol.12 (1), p.2537-10, Article 2537

2022

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Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series

Neurology, 2013-10, Vol.81 (18), p.1617-1625

2013

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Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome

Frontiers in molecular neuroscience, 2021-08, Vol.14, p.721047-721047

2021

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Imaging Biomarkers for the Diagnosis and Prognosis of Neurodegenerative Diseases. The Example of Amyotrophic Lateral Sclerosis

Frontiers in neuroscience, 2018-10, Vol.12, p.784-784

2018

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Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population

Biomedicines, 2024-02, Vol.12 (2), p.356

2024

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Do we really need to calculate a minimal important difference for ALSFRS-R?: A letter in response to 'Clinically meaningful change: evaluation of the Rasch-built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS) and the ALSFRS-R' published in Vol. 24(3-4), pp. 311-316

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2024-02, Vol.25 (1-2), p.214-215

Vázquez-Costa, Juan Francisco

2024

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Autonomic Dysfunction in α-Synucleinopathies

Frontiers in neurology, 2019-04, Vol.10, p.363-363

2019

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Handling of drugs for administration by percutaneous endoscopic gastrostomy in patients with amyotrophic lateral sclerosis and enteral nutrition

Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral, 2022-08, Vol.39 (4), p.716-722

2022

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

Journal of the neurological sciences, 2018-04, Vol.387, p.134-138

2018

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

Journal of medical genetics, 2018-12, Vol.55 (12), p.814-823

2018

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Mesencephalic area measured by transcranial sonography in the differential diagnosis of parkinsonism

Parkinsonism & related disorders, 2013-08, Vol.19 (8), p.732-736

2013

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Clinical profile of motor neuron disease patients with lower urinary tract symptoms and neurogenic bladder

Journal of the neurological sciences, 2017-07, Vol.378, p.130-136

2017

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Anosognosia in Amnestic Mild Cognitive Impairment Is Related to Diminished Hippocampal Volume Comparable to Alzheimer’s Disease Dementia: Preliminary MRI Findings

Frontiers in aging neuroscience, 2021-10, Vol.13, p.739422-739422

2021

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

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2019-04, Vol.20 (3-4), p.172-175

2019

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Extended FNAME Performance Is Preserved in Subjective Cognitive Decline but Highly Affected in Amnestic Mild Cognitive Impairment

Neuropsychology, 2023-09, Vol.37 (6), p.650-660

2023

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Risdiplam in non‐sitter patients aged 16years and older with 5q spinal muscular atrophy

Muscle & nerve, 2023-05, Vol.67 (5), p.407-411

2023

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Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation

Insights into phenotypic variability caused by GARS1 pathogenic variants

Charcot–Marie–Tooth disease due to MORC2 mutations in Spain

Urodynamic findings in amyotrophic lateral sclerosis patients with lower urinary tract symptoms: Results from a pilot study

Risdiplam in non‐sitter patients aged 16 years and older with 5q spinal muscular atrophy

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

Happiness Management»: Revisión de literatura científica en el marco de la felicidad en el trabajo

Neurodegeneration Biomarkers in Adult Spinal Muscular Atrophy (SMA) Patients Treated with Nusinersen

The first otologic surgery in a skull from El Pendón site (Reinoso, Northern Spain)

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series

Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome

Imaging Biomarkers for the Diagnosis and Prognosis of Neurodegenerative Diseases. The Example of Amyotrophic Lateral Sclerosis

Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population

Do we really need to calculate a minimal important difference for ALSFRS-R?: A letter in response to 'Clinically meaningful change: evaluation of the Rasch-built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS) and the ALSFRS-R' published in Vol. 24(3-4), pp. 311-316

Autonomic Dysfunction in α-Synucleinopathies

Spontaneous ARIA-like Events in Cerebral Amyloid Angiopathy-Related Inflammation: A Multicenter Prospective Longitudinal Cohort Study

Handling of drugs for administration by percutaneous endoscopic gastrostomy in patients with amyotrophic lateral sclerosis and enteral nutrition

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 MME mutations

Mesencephalic area measured by transcranial sonography in the differential diagnosis of parkinsonism

Clinical profile of motor neuron disease patients with lower urinary tract symptoms and neurogenic bladder

Anosognosia in Amnestic Mild Cognitive Impairment Is Related to Diminished Hippocampal Volume Comparable to Alzheimer’s Disease Dementia: Preliminary MRI Findings

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

Extended FNAME Performance Is Preserved in Subjective Cognitive Decline but Highly Affected in Amnestic Mild Cognitive Impairment

Risdiplam in non‐sitter patients aged 16years and older with 5q spinal muscular atrophy

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