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Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

Nature genetics, 2012-03, Vol.44 (3), p.254-256

2012

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Are Functional Assays for Pathogenicity Assessment of Genetic Variants Overrated?

Human mutation, 2017-01, Vol.38 (1), p.5-5

Sobrido, María‐Jesús

2017

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Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo

Cell reports (Cambridge), 2020-05, Vol.31 (5), p.107616-107616, Article 107616

2020

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SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2012-01, Vol.159B (1), p.94-103

2012

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Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study

Journal of neurology, 2022-06, Vol.269 (6), p.3189-3203

2022

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Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4

Journal of neurology, 2021-07, Vol.268 (7), p.2429-2440

2021

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Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

Orphanet journal of rare diseases, 2019-01, Vol.14 (1), p.20-20, Article 20

2019

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A nop56 Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype

Biomedicines, 2022-07, Vol.10 (8), p.1814

2022

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No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2015-01, Vol.168B (1), p.54-65

2015

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Variations in the Genome: The Mutation Detection 2015 Meeting on Detection, Genome Sequencing, and Interpretation

Human Mutation, 2016-10, Vol.37 (10), p.1106-1109

2016

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Relationship between Intracellular Na+ Concentration and Reduced Na+ Affinity in Na+,K+-ATPase Mutants Causing Neurological Disease

The Journal of biological chemistry, 2014-02, Vol.289 (6), p.3186-3197

2014

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PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36

Movement disorders, 2017-02, Vol.32 (2), p.264-273

2017

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The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

American journal of human genetics, 2014-08, Vol.95 (2), p.143-161

2014

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Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2022-01, Vol.23 (1-2), p.25-34

2022

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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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Restless Legs Syndrome: An Unresolved Uremic Disorder after Renal Transplantation

Nephron (2015), 2018-01, Vol.139 (1), p.23-29

2018

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Databases for neurogenetics: Introduction, overview, and challenges

Human mutation, 2012-09, Vol.33 (9), p.1311-1314

2012

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Phenotypical features of a new dominant GDAP1 pathogenic variant (p.r226del) in axonal charcot-marie-tooth disease

Neuromuscular disorders : NMD, 2017-07, Vol.27 (7), p.667-672

2017

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Synaptotagmin XI in Parkinson's disease: New evidence from an association study in Spain and Mexico

Journal of the neurological sciences, 2016-03, Vol.362, p.321-325

2016

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Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

Cerebellum (London, England), 2015-06, Vol.14 (3), p.378-381

2015

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Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

Human mutation, 2012-09, Vol.33 (9), p.1315-1323

2012

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Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies

Molecular genetics & genomic medicine, 2013-11, Vol.1 (4), p.206-222

2013

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A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

Neuromuscular disorders : NMD, 2011-04, Vol.21 (4), p.254-262

2011

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Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

Are Functional Assays for Pathogenicity Assessment of Genetic Variants Overrated?

Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo

SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study

Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

A nop56 Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype

No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population

Variations in the Genome: The Mutation Detection 2015 Meeting on Detection, Genome Sequencing, and Interpretation

Relationship between Intracellular Na+ Concentration and Reduced Na+ Affinity in Na+,K+-ATPase Mutants Causing Neurological Disease

PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36

The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)

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

Restless Legs Syndrome: An Unresolved Uremic Disorder after Renal Transplantation

Databases for neurogenetics: Introduction, overview, and challenges

Phenotypical features of a new dominant GDAP1 pathogenic variant (p.r226del) in axonal charcot-marie-tooth disease

Synaptotagmin XI in Parkinson's disease: New evidence from an association study in Spain and Mexico

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

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