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Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

American journal of human genetics, 2013-06, Vol.92 (6), p.946-954

2013

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Muscle strength and motor function throughout life in a cross‐sectional cohort of 180 patients with spinal muscular atrophy types 1c–4

European journal of neurology, 2018-03, Vol.25 (3), p.512-518

2018

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Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients

British journal of dermatology (1951), 2011-03, Vol.164 (3), p.637-644

2011

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Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa

International journal of molecular sciences, 2021-11, Vol.22 (22), p.12222

2021

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A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls

PloS one, 2016-11, Vol.11 (11), p.e0167087-e0167087

2016

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Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa

Journal of the European Academy of Dermatology and Venereology, 2021-09, Vol.35 (9), p.e597-e600

2021

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Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

EMBO molecular medicine, 2021-05, Vol.13 (5), p.e13258-n/a

2021

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Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

British journal of dermatology (1951), 2018-11, Vol.179 (5), p.1181-1183

2018

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Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing

Journal of the European Academy of Dermatology and Venereology, 2024-03

2024

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Regulation of constitutive STAT5 phosphorylation in acute myeloid leukemia blasts

Leukemia, 2001-12, Vol.15 (12), p.1923-1931

2001

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SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS

Neurology, 2005-09, Vol.65 (6), p.820-825

2005

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Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands

British journal of dermatology (1951), 2011-12, Vol.165 (6), p.1314-1322

2011

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Germline AGO2 mutations impair RNA interference and human neurological development

Nature communications, 2020-11, Vol.11 (1), p.5797-14, Article 5797

2020

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Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa

Molecular therapy. Nucleic acids, 2019-12, Vol.18, p.465-475

2019

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Constitutive NF-κB DNA-binding activity in AML is frequently mediated by a Ras/PI3-K/PKB-dependent pathway

Leukemia, 2004, Vol.18 (1), p.103-112

2004

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Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome

Journal of the American Society of Nephrology, 2000-08, Vol.11 (8), p.1449-1459

2000

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Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter)

Clinical genetics, 2008-11, Vol.74 (5), p.455-462

2008

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Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid

Journal of neurology, neurosurgery and psychiatry, 2011-08, Vol.82 (8), p.850-852

2011

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Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0–4

Journal of neurology, neurosurgery and psychiatry, 2017-04, Vol.88 (4), p.365-367

2017

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Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands

British journal of dermatology (1951), 2007-05, Vol.156 (5), p.861-870

2007

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Survival in SMA type I: A prospective analysis of 34 consecutive cases

Neuromuscular disorders : NMD, 2008-07, Vol.18 (7), p.541-544

2008

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Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain

Kidney international, 1998-09, Vol.54 (3), p.720-730

1998

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The aggressive behaviour of squamous cell carcinoma in epidermolysis bullosa: analysis of clinical outcomes and tumour characteristics in the Dutch EB Registry

British journal of dermatology (1951), 2022-11, Vol.187 (5), p.824-826

2022

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Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome

Nature genetics, 1994-09, Vol.8 (1), p.77-82

1994

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The clinical spectrum of type IV collagen mutations

Human mutation, 1997, Vol.9 (6), p.477-499

1997

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Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

Muscle strength and motor function throughout life in a cross‐sectional cohort of 180 patients with spinal muscular atrophy types 1c–4

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients

Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa

A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls

Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing

Regulation of constitutive STAT5 phosphorylation in acute myeloid leukemia blasts

SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS

Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands

Germline AGO2 mutations impair RNA interference and human neurological development

Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa

Constitutive NF-κB DNA-binding activity in AML is frequently mediated by a Ras/PI3-K/PKB-dependent pathway

Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome

Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter)

Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid

Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0–4

Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands

Survival in SMA type I: A prospective analysis of 34 consecutive cases

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain

The aggressive behaviour of squamous cell carcinoma in epidermolysis bullosa: analysis of clinical outcomes and tumour characteristics in the Dutch EB Registry

Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome

The clinical spectrum of type IV collagen mutations

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