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Relationship Between Sporadic Behavioral Variant Frontotemporal Dementia and Primary Psychiatric Disorders: A Study in Families

The journal of clinical psychiatry, 2022-11, Vol.83 (6)

2022

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Early life involvement in C9orf72 repeat expansion carriers

Journal of neurology, neurosurgery and psychiatry, 2022-01, Vol.93 (1), p.93-100

2022

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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Brain (London, England : 1878), 2011-01, Vol.134 (Pt 1), p.143-156

2011

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Letter to the editor on a paper by Kaivola et al. (2020): carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic lateral sclerosis or frontotemporal dementia

Acta neuropathologica communications, 2022-09, Vol.10 (1), p.141-3, Article 141

2022

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Effective Cauda Equina Decompression in two Siblings with Charcot-Marie-Tooth Disease Type 1B

Neuromuscular disorders : NMD, 2016-12, Vol.26 (12), p.837-840

2016

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Evaluation of the similarity of gene expression data estimated with SAGE and Affymetrix GeneChips

BMC genomics, 2005-06, Vol.6 (1), p.91-91, Article 91

2005

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Cystatin M/E Expression is Restricted to Differentiated Epidermal Keratinocytes and Sweat Glands: a New Skin-Specific Proteinase Inhibitor that is a Target for Cross-Linking by Transglutaminase

Journal of investigative dermatology, 2001-05, Vol.116 (5), p.693-701

2001

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Induction of SLPI (ALP/HUSI-I) in Epidermal Keratinocytes

Journal of investigative dermatology, 1998-12, Vol.111 (6), p.996-1002

1998

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Tumor Necrosis Factor Related Apoptosis Inducing Ligand Triggers Apoptosis in Dividing but not in Differentiating Human Epidermal Keratinocytes

Journal of investigative dermatology, 2003-12, Vol.121 (6), p.1433-1439

2003

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Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities

Human molecular genetics, 2018-12, Vol.27 (23), p.4036-4050

2018

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Pathogenic variants in three families with distal muscle involvement

Neuromuscular disorders : NMD, 2023-01, Vol.33 (1), p.58-64

2023

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Serial Analysis of Gene Expression in Differentiated Cultures of Human Epidermal Keratinocytes

Journal of investigative dermatology, 2001-01, Vol.116 (1), p.12-22

2001

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LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P

Human molecular genetics, 2017-06, Vol.26 (11), p.2034-2041

2017

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Myoclonus-dystonia: An under-recognized entity - Report of 5 cases

Neurology India, 2016-09, Vol.64 (5), p.980-983

2016

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Differential Effects of Detergents on Keratinocyte Gene Expression

Journal of investigative dermatology, 1998-04, Vol.110 (4), p.358-363

1998

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A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2015-08, Vol.16 (5-6), p.410-411

2015

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Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations

Journal of the peripheral nervous system, 2017-12, Vol.22 (4), p.464-467

2017

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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

Orphanet journal of rare diseases, 2014-02, Vol.9 (1), p.23-23, Article 23

2014

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Development of a keratinocyte-based screening model for antipsoriatic drugs using green fluorescent protein under the control of an endogenous promoter

Journal of biomolecular screening, 2002-08, Vol.7 (4), p.325-332

2002

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TSEN54 mutations cause pontocerebellar hypoplasia type 5

European journal of human genetics : EJHG, 2011-06, Vol.19 (6), p.724-726

2011

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Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

European journal of human genetics : EJHG, 2010-04, Vol.18 (4), p.421-428

2010

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Full transcriptome analysis of rhabdomyosarcoma, normal, and fetal skeletal muscle: statistical comparison of multiple SAGE libraries

The FASEB journal, 2005-03, Vol.19 (3), p.404-406

2005

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Cell kinetic characterization of growth arrest in cultured human keratinocytes

Journal of cell science, 1994-08, Vol.107 (8), p.2219-2228

1994

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Constitutive and inducible expression of SKALP/elafin provides anti-elastase defense in human epithelia

The Journal of clinical investigation, 1996-09, Vol.98 (6), p.1389-1399

1996

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Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family

Neuromuscular disorders : NMD, 2008-01, Vol.18 (1), p.59-62

2008

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Relationship Between Sporadic Behavioral Variant Frontotemporal Dementia and Primary Psychiatric Disorders: A Study in Families

Early life involvement in C9orf72 repeat expansion carriers

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Letter to the editor on a paper by Kaivola et al. (2020): carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic lateral sclerosis or frontotemporal dementia

Effective Cauda Equina Decompression in two Siblings with Charcot-Marie-Tooth Disease Type 1B

Evaluation of the similarity of gene expression data estimated with SAGE and Affymetrix GeneChips

Cystatin M/E Expression is Restricted to Differentiated Epidermal Keratinocytes and Sweat Glands: a New Skin-Specific Proteinase Inhibitor that is a Target for Cross-Linking by Transglutaminase

Induction of SLPI (ALP/HUSI-I) in Epidermal Keratinocytes

Tumor Necrosis Factor Related Apoptosis Inducing Ligand Triggers Apoptosis in Dividing but not in Differentiating Human Epidermal Keratinocytes

Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities

Pathogenic variants in three families with distal muscle involvement

Serial Analysis of Gene Expression in Differentiated Cultures of Human Epidermal Keratinocytes

LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P

Myoclonus-dystonia: An under-recognized entity - Report of 5 cases

Differential Effects of Detergents on Keratinocyte Gene Expression

A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations

Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

Development of a keratinocyte-based screening model for antipsoriatic drugs using green fluorescent protein under the control of an endogenous promoter

TSEN54 mutations cause pontocerebellar hypoplasia type 5

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

Full transcriptome analysis of rhabdomyosarcoma, normal, and fetal skeletal muscle: statistical comparison of multiple SAGE libraries

Cell kinetic characterization of growth arrest in cultured human keratinocytes

Constitutive and inducible expression of SKALP/elafin provides anti-elastase defense in human epithelia

Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family

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