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MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension

Scientific reports, 2021-01, Vol.11 (1), p.1583-1583, Article 1583

2021

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Publisher Correction: MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension

Scientific reports, 2021-04, Vol.11 (1), p.8237-8237, Article 8237

2021

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Diagnosis of Charcot-Marie-Tooth disease

BioMed research international, 2009-01, Vol.2009, p.985415

2009

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Giant SCA8 alleles in nine children whose mother has two moderately large ones

Annals of neurology, 2005-04, Vol.57 (4), p.549-553

2005

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A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype

Muscle & nerve, 2012-01, Vol.45 (1), p.135-138

2012

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Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

Human molecular genetics, 2001-04, Vol.10 (9), p.947-952

2001

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Charcot-marie-tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene

Muscle & nerve, 2010-08, Vol.42 (2), p.184-188

2010

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Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene

Journal of the neurological sciences, 2009-05, Vol.280 (1), p.10-14

2009

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Spinocerebellar ataxias in Spanish patients : genetic analysis of familial and sporadic cases

Human genetics, 1999-07, Vol.104 (6), p.516-522

1999

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Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish population

International journal of legal medicine, 1993-09, Vol.105 (5), p.271-277

1993

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Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene

Human mutation, 2000-05, Vol.15 (5), p.481-482

2000

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Erratum to: Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases

Human genetics, 1999-10, Vol.105 (4), p.376-376

1999

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Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method

Journal of medical genetics, 1998-02, Vol.35 (2), p.99-102

1998

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Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients

Human genetics, 1997-11, Vol.101 (1), p.18-21

1997

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A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype

Muscle & Nerve, 2012, Vol.45 (1), p.135-138

2012

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Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1)

Journal of medical genetics, 1994-08, Vol.31 (8), p.654-655

1994

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MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension

Publisher Correction: MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension

Diagnosis of Charcot-Marie-Tooth disease

Giant SCA8 alleles in nine children whose mother has two moderately large ones

A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

Charcot-marie-tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene

Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene

Spinocerebellar ataxias in Spanish patients : genetic analysis of familial and sporadic cases

Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish population

Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene

Erratum to: Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases

Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method

Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients

A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype

Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1)

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