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Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

Human mutation, 2013-01, Vol.34 (1), p.79-82

2013

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Analysis of the C 9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

Human mutation, 2013-01, Vol.34 (1), p.79-82

2013

Volltextzugriff (PDF)

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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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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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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Discovery of SARS-CoV-2 antiviral drugs through large-scale compound repurposing

Nature (London), 2020-10, Vol.586 (7827), p.113-119

2020

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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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Restless legs syndrome in non-dialysis renal patients: is it really that common?

Journal of clinical sleep medicine, 2015-01, Vol.11 (1), p.57-60

2015

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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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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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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Nature genetics, 2015-06, Vol.47 (6), p.579-581

2015

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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

Genome medicine, 2023-09, Vol.15 (1), p.1-68, Article 68

2023

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Axonal neuropathy, long limbs and bumpy tongue: Think of MEN2B

Muscle & nerve, 2012-12, Vol.46 (6), p.957-961

2012

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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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Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project

Genetics in medicine, 2009-12, Vol.11 (12), p.843-849

2009

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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

American journal of human genetics, 2019-04, Vol.104 (4), p.767-773

2019

Volltextzugriff (PDF)

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

American journal of human genetics, 2019-06, Vol.104 (6), p.1251-1251

2019

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Symptom-Based Predictive Model of COVID-19 Disease in Children

Viruses, 2021-12, Vol.14 (1), p.63

2021

Volltextzugriff (PDF)

Applied and translational neurogenomics

Applied & translational genomics, 2015-06, Vol.5, p.1-2

2015

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Practical guidelines addressing ethical issues pertaining to the curation of human locus‐specific variation databases (LSDBs)

Human mutation, 2010-11, Vol.31 (11), p.1179-1184

2010

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Author Correction: Discovery of SARS-CoV-2 antiviral drugs through large-scale compound repurposing

Nature (London), 2024-07, Vol.631 (8019), p.E3-E3

2024

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Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

Neurogenetics, 2013-02, Vol.14 (1), p.11-22

2013

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mtDNA mutations in tumors of the central nervous system reflect the neutral evolution of mtDNA in populations

Oncogene, 2004-02, Vol.23 (6), p.1314-1320

2004

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Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

Analysis of the C 9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

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

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

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

Discovery of SARS-CoV-2 antiviral drugs through large-scale compound repurposing

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

Restless legs syndrome in non-dialysis renal patients: is it really that common?

Automated semantic annotation of rare disease cases: a case study

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

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36

Axonal neuropathy, long limbs and bumpy tongue: Think of MEN2B

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

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Symptom-Based Predictive Model of COVID-19 Disease in Children

Applied and translational neurogenomics

Practical guidelines addressing ethical issues pertaining to the curation of human locus‐specific variation databases (LSDBs)

Author Correction: Discovery of SARS-CoV-2 antiviral drugs through large-scale compound repurposing

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

mtDNA mutations in tumors of the central nervous system reflect the neutral evolution of mtDNA in populations

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