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G.P.52

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.810-810

2014

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Ultrastructural Differences in Cutaneous Mast Cells from Patients with Hermansky-Pudlak Syndrome

Journal of allergy and clinical immunology, 2011-02, Vol.127 (2), p.AB132-AB132

2011

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G.P.95 Two sibs with early onset myopathy with areflexia, respiratory distress, and dysphagia (EMARDD) due to homozygous exon 7 deletion in MEGF10

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.870-871

2012

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Hypercementosis Associated with ENPP1 Mutations and GACI

Journal of dental research, 2018-04, Vol.97 (4), p.432-441

2018

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Bayesian model of disease progression in GNE myopathy

Statistics in medicine, 2019-04, Vol.38 (8), p.1459-1474

2019

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The Undiagnosed Diseases Network International: Five years and more

Molecular genetics and metabolism, 2020-04, Vol.129 (4), p.243-254

2020

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P2.09 A non-viral, GNE -lipoplex treatment to correct sialylation defects in hereditary inclusion body myopathy (HIBM)

Neuromuscular disorders : NMD, 2010-10, Vol.20 (9), p.620-621

2010

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Proteomic analysis of platelet α‐granules using mass spectrometry

Journal of thrombosis and haemostasis, 2007-09, Vol.5 (9), p.1945-1955

2007

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Biallelic mutations in mitochondrial tryptophanyl‐tRNA synthetase cause Levodopa‐responsive infantile‐onset Parkinsonism

Clinical genetics, 2018-03, Vol.93 (3), p.712-718

2018

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Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations

Clinical genetics, 2017-05, Vol.91 (5), p.690-696

2017

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The α‐granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome

Journal of thrombosis and haemostasis, 2010-08, Vol.8 (8), p.1786-1796

2010

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Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability

Molecular genetics and metabolism, 2018-07, Vol.124 (3), p.204-209

2018

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Platelet‐Derived CD154: Ultrastructural Localization and Clinical Correlation in Organ Transplantation

American journal of transplantation, 2012-11, Vol.12 (11), p.3143-3151

2012

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G.P.52: Cardiac impairment in GNE myopathy

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9-10), p.810-810

2014

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Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: Implications for diagnostics and neonatal screening

Molecular genetics and metabolism, 2011-03, Vol.102 (3), p.339-342

2011

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Hermansky‐Pudlak syndrome: the importance of molecular subtyping

Journal of thrombosis and haemostasis, 2010-07, Vol.8 (7), p.1643-1645

2010

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Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes

Oral diseases, 2009-04, Vol.15 (3), p.187-195

2009

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Identifying Putative Promoter Regions of Hermansky‐Pudlak Syndrome Genes by Means of Phylogenetic Footprinting

Annals of human genetics, 2009-07, Vol.73 (4), p.422-428

2009

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Reply to Ménasché et al

American journal of human genetics, 2002-11, Vol.71 (5), p.1238-1238

2002

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Hermansky-Pudlak Syndrome Type-4 (Hps-4); Clinical and Molecular Characteristics

Journal of investigative medicine, 2004-01, Vol.52 (1_suppl_part_1), p.100-100

2004

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Hermansky-Pudlak Syndrome Type-4 (Hps-4); Clinical and Molecular Characteristics

Journal of investigative medicine, 2004-01, Vol.52 (1_suppl_part_1), p.91-91

2004

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Proteoglycan synthesis in normal and Lowe syndrome fibroblasts

The Journal of biological chemistry, 1987-04, Vol.262 (12), p.5637-5643

1987

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Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection

Human genetics, 2000-03, Vol.106 (3), p.370-373

2000

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Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection

Human genetics, 2000-03, Vol.106 (3), p.370-373

2000

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Redox, transferrin-independent, and receptor-mediated endocytosis iron uptake systems in cultured human fibroblasts

The Journal of biological chemistry, 1993-10, Vol.268 (29), p.21586-21591

1993

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G.P.52

Ultrastructural Differences in Cutaneous Mast Cells from Patients with Hermansky-Pudlak Syndrome

G.P.95 Two sibs with early onset myopathy with areflexia, respiratory distress, and dysphagia (EMARDD) due to homozygous exon 7 deletion in MEGF10

Hypercementosis Associated with ENPP1 Mutations and GACI

Bayesian model of disease progression in GNE myopathy

The Undiagnosed Diseases Network International: Five years and more

P2.09 A non-viral, GNE -lipoplex treatment to correct sialylation defects in hereditary inclusion body myopathy (HIBM)

Proteomic analysis of platelet α‐granules using mass spectrometry

Biallelic mutations in mitochondrial tryptophanyl‐tRNA synthetase cause Levodopa‐responsive infantile‐onset Parkinsonism

Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations

The α‐granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome

Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability

Platelet‐Derived CD154: Ultrastructural Localization and Clinical Correlation in Organ Transplantation

G.P.52: Cardiac impairment in GNE myopathy

Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: Implications for diagnostics and neonatal screening

Hermansky‐Pudlak syndrome: the importance of molecular subtyping

Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes

Identifying Putative Promoter Regions of Hermansky‐Pudlak Syndrome Genes by Means of Phylogenetic Footprinting

Reply to Ménasché et al

Hermansky-Pudlak Syndrome Type-4 (Hps-4); Clinical and Molecular Characteristics

Hermansky-Pudlak Syndrome Type-4 (Hps-4); Clinical and Molecular Characteristics

Proteoglycan synthesis in normal and Lowe syndrome fibroblasts

Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection

Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection

Redox, transferrin-independent, and receptor-mediated endocytosis iron uptake systems in cultured human fibroblasts

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