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Accelerated atherosclerosis in ANCA‐associated vasculitis

Acta neurologica Scandinavica, 2017-12, Vol.136 (6), p.688-693

2017

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Triple therapy with deferiprone, idebenone and riboflavin in Friedreich's ataxia - open-label trial

Acta neurologica Scandinavica, 2014-01, Vol.129 (1), p.32-40

2014

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Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain

Neurología (Barcelona, English ed. ), 2022-05, Vol.37 (4), p.257-262

2022

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Heredoataxia cerebelosa recesiva ARCA1/SCAR8: primeras familias detectadas en España

Neurología (Barcelona, Spain), 2022-05, Vol.37 (4), p.257-262

2022

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Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort

Neuromuscular disorders : NMD, 2015-07, Vol.25 (7), p.548-553

2015

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Ophthalmic features of Friedreich ataxia

Eye (London), 2012-02, Vol.26 (2), p.315-320

2012

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Leukoencephalopathy due to Oral Methotrexate

Cerebellum (London, England), 2014-02, Vol.13 (1), p.178-183

2014

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Evolución a largo plazo de la hidrocefalia crónica del adulto idiopática tratada con válvula de derivación ventrículo-peritoneal

Neurología (Barcelona, Spain), 2017-05, Vol.32 (4), p.205-212

2017

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Juvenile-onset Becker type myotonia congenita

Journal of the neurological sciences, 2013-10, Vol.333, p.e432-e432

2013

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Late onset post-radiotherapy brachial plexopathy

Journal of the neurological sciences, 2013-10, Vol.333, p.e432-e432

2013

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Long-term outcomes of adult chronic idiopathic hydrocephalus treated with a ventriculo-peritoneal shunt

Neurologia (Barcelona, Spain), 2017-05, Vol.32 (4), p.205

2017

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Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants

Molecular diagnosis & therapy, 2017-06, Vol.21 (3), p.303-313

2017

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Neuralgic amyotrophy: variable expression in 40 patients

Journal of the peripheral nervous system, 2002-09, Vol.7 (3), p.198-204

2002

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A novel locus for a hereditary recurrent neuropathy on chromosome 21q21

Neuromuscular disorders : NMD, 2014-08, Vol.24 (8), p.660-665

2014

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Paraneoplastic Neurological Syndromes and Glutamic Acid Decarboxylase Antibodies

JAMA neurology, 2015-08, Vol.72 (8), p.874

2015

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Long-term outcomes of adult chronic idiopathic hydrocephalus treated with a ventriculo-peritoneal shunt

Neurología (Barcelona, English ed. ), 2017-05, Vol.32 (4), p.205-212

2017

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Autoantibodies to glutamic acid decarboxylase in three patients with cerebellar ataxia, late-onset insulin-dependent diabetes mellitus, and polyendocrine autoimmunity

Neurology, 1997-10, Vol.49 (4), p.1026-1030

1997

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Pancreatic glucagonoma: A case report

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.], 2013-07, Vol.13 (4), p.e7-e7

2013

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Conditions associated with REM sleep behaviour disorder: Description of a hospital series

Neurología (Barcelona, English ed. ), 2019-04, Vol.34 (3), p.159-164

2019

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Outcome of patients with amyotrophic lateral sclerosis attending in a multidisciplinary care unit

Neurologia (Barcelona, Spain), 2011-10, Vol.26 (8), p.455

2011

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Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

Human genetics, 1997-06, Vol.99 (6), p.746-754

1997

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Evolución de pacientes con esclerosis lateral amiotrófica atendidos en una unidad multidisciplinar

Neurología (Barcelona, Spain), 2011-10, Vol.26 (8), p.455-460

2011

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Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort

Journal of neuromuscular diseases, 2015, Vol.2 (s1), p.S42-S42

2015

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Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain

Neurología (Barcelona, English ed. ), 2022-05, Vol.37 (4), p.257-262

2022

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SARAgrama»: una propuesta de representación gráfica en la evolución de las ataxias

Neurología (Barcelona, Spain), 2015-07, Vol.30 (6), p.387-388

2015

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Accelerated atherosclerosis in ANCA‐associated vasculitis

Triple therapy with deferiprone, idebenone and riboflavin in Friedreich's ataxia - open-label trial

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain

Heredoataxia cerebelosa recesiva ARCA1/SCAR8: primeras familias detectadas en España

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort

Ophthalmic features of Friedreich ataxia

Leukoencephalopathy due to Oral Methotrexate

Evolución a largo plazo de la hidrocefalia crónica del adulto idiopática tratada con válvula de derivación ventrículo-peritoneal

Juvenile-onset Becker type myotonia congenita

Late onset post-radiotherapy brachial plexopathy

Long-term outcomes of adult chronic idiopathic hydrocephalus treated with a ventriculo-peritoneal shunt

Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants

Neuralgic amyotrophy: variable expression in 40 patients

A novel locus for a hereditary recurrent neuropathy on chromosome 21q21

Paraneoplastic Neurological Syndromes and Glutamic Acid Decarboxylase Antibodies

Long-term outcomes of adult chronic idiopathic hydrocephalus treated with a ventriculo-peritoneal shunt

Autoantibodies to glutamic acid decarboxylase in three patients with cerebellar ataxia, late-onset insulin-dependent diabetes mellitus, and polyendocrine autoimmunity

Pancreatic glucagonoma: A case report

Conditions associated with REM sleep behaviour disorder: Description of a hospital series

Outcome of patients with amyotrophic lateral sclerosis attending in a multidisciplinary care unit

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

Evolución de pacientes con esclerosis lateral amiotrófica atendidos en una unidad multidisciplinar

Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain

SARAgrama»: una propuesta de representación gráfica en la evolución de las ataxias

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