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Hallucinations and delusions are frequently reported in individuals with Dravet syndrome

Epilepsy & behavior, 2015-11, Vol.52 (Pt A), p.222-224

2015

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Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene

Neuromuscular disorders : NMD, 2016-09, Vol.26 (9), p.598-603

2016

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A family-based investigation of cold pain tolerance

Pain (Amsterdam), 2008-08, Vol.138 (1), p.111-118

2008

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A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline

Journal of the neurological sciences, 2011-01, Vol.300 (1), p.160-163

2011

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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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Juvenile open angle glaucoma : fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis

Human genetics, 1998-01, Vol.102 (1), p.103-106

1998

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A polymorphic locus in the intron 16 of the human angiotensin-converting enzyme (ACE) gene is not correlated with complex regional pain syndrome I (CRPS I)

European journal of pain, 2004-06, Vol.8 (3), p.221-225

2004

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P67 MFN2 mutations cause compensatory mitochondrial DNA proliferation

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S25-S26

2012

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Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation

Neurology, 2004-08, Vol.63 (4), p.733-735

2004

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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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A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT

European journal of neurology, 2008-06, Vol.15 (6), p.548-551

2008

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Severe Myoclonic Epilepsy in Infancy – Adult Phenotype with Bradykinesia, Hypomimia, and Perseverative Behavior: Report of Five Cases

Molecular syndromology, 2010-01, Vol.1 (5), p.231-238

2010

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Hereditäre Optikusatrophien

Medizinische Genetik, 2014, Vol.26 (1), p.11-20

2014

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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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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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Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis

Neuromuscular disorders : NMD, 2005-11, Vol.15 (11), p.764-767

2005

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Hereditäre Optikusatrophien

Medizinische Genetik, 2014-03, Vol.26 (1), p.11-20

2014

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G.P.18.01 Giant axonal neuropathy: Phenotype–genotype correlations in two cases with two novel mutations in the Gigaxonin gene

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.890-890

2007

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Widespread expression of the peripheral myelin protein-22 gene (pmp22) in neural and non-neural tissues during murine development

Journal of neuroscience research, 1995-12, Vol.42 (6), p.733-741

1995

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Novel Mutation in the Inverted Formin 2 Gene in a Family with Hereditary Motor and Sensory Neuropathy, and Nephropathy

Neuropediatrics, 2015, Vol.46 (S 01)

2015

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A GLC1A gene Gln368Stop mutation in a patient with normal-tension open-angle glaucoma

Journal of glaucoma, 1999-04, Vol.8 (2), p.154-156

1999

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Prospective case control study on genetic assocation of apolipoprotein ε2 with intraocular pressure

British journal of ophthalmology, 2004-04, Vol.88 (4), p.581

2004

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Transcriptional startpoints and methylation patterns in the PMP22 promoters of peripheral nerve, leukocytes and tumor cell lines

International journal of molecular medicine, 2001-06, Vol.7 (6), p.669

2001

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Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme

Human mutation, 2008-09, Vol.29 (9), p.1147-1153

2008

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Charcot-Marie-Tooth 1A: Heterozygous T118M Mutation over a CMT1A Duplication Has No Influence on the Phenotype

Annals of the New York Academy of Sciences, 1999-10, Vol.883 (1), p.485-489

1999

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Hallucinations and delusions are frequently reported in individuals with Dravet syndrome

Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene

A family-based investigation of cold pain tolerance

A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline

Transcriptional regulator PRDM12 is essential for human pain perception

Juvenile open angle glaucoma : fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis

A polymorphic locus in the intron 16 of the human angiotensin-converting enzyme (ACE) gene is not correlated with complex regional pain syndrome I (CRPS I)

P67 MFN2 mutations cause compensatory mitochondrial DNA proliferation

Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation

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

A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT

Severe Myoclonic Epilepsy in Infancy – Adult Phenotype with Bradykinesia, Hypomimia, and Perseverative Behavior: Report of Five Cases

Hereditäre Optikusatrophien

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

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

Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis

Hereditäre Optikusatrophien

G.P.18.01 Giant axonal neuropathy: Phenotype–genotype correlations in two cases with two novel mutations in the Gigaxonin gene

Widespread expression of the peripheral myelin protein-22 gene (pmp22) in neural and non-neural tissues during murine development

Novel Mutation in the Inverted Formin 2 Gene in a Family with Hereditary Motor and Sensory Neuropathy, and Nephropathy

A GLC1A gene Gln368Stop mutation in a patient with normal-tension open-angle glaucoma

Prospective case control study on genetic assocation of apolipoprotein ε2 with intraocular pressure

Transcriptional startpoints and methylation patterns in the PMP22 promoters of peripheral nerve, leukocytes and tumor cell lines

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme

Charcot-Marie-Tooth 1A: Heterozygous T118M Mutation over a CMT1A Duplication Has No Influence on the Phenotype

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