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Transcriptional regulator PRDM12 is essential for human pain perception

Nature genetics, 2015-07, Vol.47 (7), p.803-808

2015

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Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene

Cephalalgia, 2014-03, Vol.34 (3), p.183-190

2014

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A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients

Brain (London, England : 1878), 2012-01, Vol.135 (1), p.72-87

2012

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Clinical utility gene card for: HMSN HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP

European journal of human genetics : EJHG, 2010-09, Vol.18 (9), p.1071-1071

2010

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Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes

BMC medical genetics, 2013-09, Vol.14 (1), p.92-92, Article 92

2013

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A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

Movement disorders, 2012-05, Vol.27 (6), p.789-793

2012

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Targeting inherited peripheral neuropathies in the postgenomic era

Neurology, 2011-08, Vol.77 (6), p.520

Rautenstrauss, Bernd

2011

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A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype

Revista de biología tropical, 2014-12, Vol.62 (4), p.1285-1293

2014

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Genetic and phenotypic variability of optic neuropathies

Expert review of neurotherapeutics, 2013-04, Vol.13 (4), p.357-367

2013

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A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP

European journal of human genetics : EJHG, 2003-02, Vol.11 (2), p.170-178

2003

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Primary Congenital Glaucoma: Three Case Reports on Novel Mutations and Combinations of Mutations in the GLC3A (CYP1B1) Gene

Journal of glaucoma, 2001-08, Vol.10 (4), p.354-357

2001

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Mutations in the LMNA gene do not cause axonal CMT in Czech patients

Journal of human genetics, 2009-06, Vol.54 (6), p.365-368

2009

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Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life‐threatening vincristine neurotoxicity

British journal of haematology, 2001-11, Vol.115 (2), p.323-325

2001

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Primary Congenital Glaucoma: A Novel Single-Nucleotide Deletion and Varying Phenotypic Expression for the 1546–1555dup Mutation in the GLC3A (CYP1B1) Gene in 2 Families of Different Ethnic Origin

Journal of glaucoma, 2003-02, Vol.12 (1), p.27-30

2003

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Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Brain (London, England : 1878), 2015-08, Vol.138 (Pt 8), p.2161-2172

2015

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Europäische Leitlinien zur molekulargenetischen Diagnostik der Charcot-Marie-Tooth Neuropathien

Medizinische Genetik, 2009-12, Vol.21 (4)

2009

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Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

BMC proceedings, 2012-10, Vol.6 (S6), p.P25-P25, Article P25

2012

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Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle Glaucoma

American journal of human genetics, 2009-10, Vol.85 (4), p.447-456

2009

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Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

American journal of human genetics, 2010-06, Vol.86 (6), p.892-903

2010

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Heterozygous Loss-of-Function Variants in CYP1B1 Predispose to Primary Open-Angle Glaucoma

Investigative ophthalmology & visual science, 2010-01, Vol.51 (1), p.249-254

2010

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Hemiplegic migraine with reversible cerebral vasoconstriction caused by ATP1A2 mutations

Journal of neurology, 2013-08, Vol.260 (8), p.2172-2174

2013

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Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies

Neurology India, 2009-03, Vol.57 (2), p.181-184

2009

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Glaucoma in Costa Rica. Initial approaches

Revista de biología tropical, 2004-09, Vol.52 (3), p.507-520

2004

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Transcriptional regulator PRDM12 is essential for human pain perception

Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene

A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients

Clinical utility gene card for: HMSN HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

Targeting inherited peripheral neuropathies in the postgenomic era

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype

Genetic and phenotypic variability of optic neuropathies

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP

Primary Congenital Glaucoma: Three Case Reports on Novel Mutations and Combinations of Mutations in the GLC3A (CYP1B1) Gene

Mutations in the LMNA gene do not cause axonal CMT in Czech patients

Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life‐threatening vincristine neurotoxicity

Primary Congenital Glaucoma: A Novel Single-Nucleotide Deletion and Varying Phenotypic Expression for the 1546–1555dup Mutation in the GLC3A (CYP1B1) Gene in 2 Families of Different Ethnic Origin

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Europäische Leitlinien zur molekulargenetischen Diagnostik der Charcot-Marie-Tooth Neuropathien

Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle Glaucoma

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

Heterozygous Loss-of-Function Variants in CYP1B1 Predispose to Primary Open-Angle Glaucoma

Hemiplegic migraine with reversible cerebral vasoconstriction caused by ATP1A2 mutations

Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies

Glaucoma in Costa Rica. Initial approaches

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