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PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

Clinical genetics, 2017-11, Vol.92 (5), p.534-539

2017

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Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey

European journal of neurology, 2011-10, Vol.18 (10), p.1203-1211

2011

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Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36)

Cerebellum (London, England), 2020-08, Vol.19 (4), p.501-509

2020

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Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia

Clinical genetics, 2014-02, Vol.85 (2), p.154-158

2014

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Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)

Neurology, 2004-12, Vol.63 (11), p.2165-2167

2004

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Association study of the serotoninergic system in migraine in the spanish population

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-01, Vol.153B (1), p.177-184

2010

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Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study

Neurología (Barcelona, English ed. ), 2023-07

2023

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SCA8 repeat expansions in ataxia: a controversial association

Neurology, 2001-10, Vol.57 (7), p.1310-1312

2001

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Possible association of the tau H1/H1 genotype with primary progressive aphasia

Neurology, 2003-03, Vol.60 (5), p.862-864

2003

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Spinocerebellar ataxia 36 (SCA36): «Costa da Morte ataxia

Neurologia (Barcelona, Spain), 2017-07, Vol.32 (6), p.386

2017

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A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism

Human molecular genetics, 2009-07, Vol.18 (13), p.2370-2377

2009

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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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Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family

Brain (London, England : 1878), 2005-07, Vol.128 (7), p.1716-1727

2005

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Automated semantic annotation of rare disease cases: a case study

Database : the journal of biological databases and curation, 2014-06, Vol.2014, p.bau045-bau045

2014

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SNOMED CT module-driven clinical archetype management

Journal of biomedical informatics, 2013-06, Vol.46 (3), p.388-400

2013

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Medical genomics: The intricate path from genetic variant identification to clinical interpretation

Applied & translational genomics, 2014-09, Vol.3 (3), p.60-67

2014

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Prevalence of parkinsonism and Parkinson's disease in the Arosa Island (Spain): A community-based door-to-door survey

Journal of the neurological sciences, 2011-05, Vol.304 (1), p.49-54

2011

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Clinical picture of a patient with a novel PSEN1 mutation (L424V)

American journal of Alzheimer's disease and other dementias, 2009-02, Vol.24 (1), p.40-45

2009

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Low frequency of replication errors in primary nervous system tumours

Journal of neurology, neurosurgery and psychiatry, 2000-09, Vol.69 (3), p.369-375

2000

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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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Analysis of 2 antiapoptotic factors in gliomas: bcl-2 overexpression and p53 mutations

Archives of pathology & laboratory medicine (1976), 2001-02, Vol.125 (2), p.218-223

2001

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Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification ("Fahr's disease")

Journal of molecular neuroscience, 2007-10, Vol.33 (2), p.151-154

2007

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Genetic counselling in neurology: a complex problem that requires regulation

Neurologia (Barcelona, Spain), 2011-04, Vol.26 (3), p.129

2011

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Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing

Case reports in neurology, 2011-04, Vol.3 (1), p.86-90

2011

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SPG46 spastic paraplegia due to GBA2 mutation: description of the first case in Spain

Neurología (Barcelona, English ed. ), 2023-06, Vol.38 (5), p.372-374

2023

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PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey

Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36)

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia

Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)

Association study of the serotoninergic system in migraine in the spanish population

Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study

SCA8 repeat expansions in ataxia: a controversial association

Possible association of the tau H1/H1 genotype with primary progressive aphasia

Spinocerebellar ataxia 36 (SCA36): «Costa da Morte ataxia

A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism

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

Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family

Automated semantic annotation of rare disease cases: a case study

SNOMED CT module-driven clinical archetype management

Medical genomics: The intricate path from genetic variant identification to clinical interpretation

Prevalence of parkinsonism and Parkinson's disease in the Arosa Island (Spain): A community-based door-to-door survey

Clinical picture of a patient with a novel PSEN1 mutation (L424V)

Low frequency of replication errors in primary nervous system tumours

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

Analysis of 2 antiapoptotic factors in gliomas: bcl-2 overexpression and p53 mutations

Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification ("Fahr's disease")

Genetic counselling in neurology: a complex problem that requires regulation

Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing

SPG46 spastic paraplegia due to GBA2 mutation: description of the first case in Spain

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