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Colon cancer associated transcript-1: A novel RNA expressed in malignant and pre-malignant human tissues

International journal of cancer, 2012-04, Vol.130 (7), p.1598-1606

2012

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Distinctive patterns of microRNA expression in primary muscular disorders

Proceedings of the National Academy of Sciences - PNAS, 2007-10, Vol.104 (43), p.17016-17021

2007

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Mutations and polymorphisms of the skeletal muscle α-actin gene (ACTA1)

Human mutation, 2009-09, Vol.30 (9), p.1267-1277

2009

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Generation and characterization of a novel gne Knockout Model in Zebrafish

Frontiers in cell and developmental biology, 2022-10, Vol.10, p.976111-976111

2022

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Development of a microRNA-based molecular assay for the detection of papillary thyroid carcinoma in aspiration biopsy samples

Thyroid (New York, N.Y.), 2011-02, Vol.21 (2), p.111

2011

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In vivo and in vitro genome editing to explore GNE functions

Frontiers in genome editing, 2022-09, Vol.4, p.930110-930110

2022

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The proteomic profile of hereditary inclusion body myopathy

PloS one, 2011-01, Vol.6 (1), p.e16334-e16334

2011

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The Obesogenic and Glycemic Effect of Bariatric Surgery in a Family with a Melanocortin 4 Receptor Loss-of-Function Mutation

Metabolites, 2022-05, Vol.12 (5), p.430

2022

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The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

Nature genetics, 2001-09, Vol.29 (1), p.83-87

2001

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Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells

Stem cell reports, 2015-08, Vol.5 (2), p.221-231

2015

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Detection of N-glycans on small amounts of glycoproteins in tissue samples and sodium dodecyl sulfate–polyacrylamide gels

Analytical biochemistry, 2012-04, Vol.423 (2), p.253-260

2012

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Variable myopathic presentation in a single family with novel skeletal RYR1 mutation

PloS one, 2013-07, Vol.8 (7), p.e69296-e69296

2013

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Hereditary inclusion body myopathy and other rimmed vacuolar myopathies

Handbook of Clinical Neurology, 2007, Vol.86, p.243-253

2007

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UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle?

PloS one, 2008-06, Vol.3 (6), p.e2477-e2477

2008

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Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps

Human mutation, 2003-01, Vol.21 (1), p.99-99

2003

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GNE is involved in the early development of skeletal and cardiac muscle

PloS one, 2011-06, Vol.6 (6), p.e21389-e21389

2011

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Attention deficit hyperactivity disorder in obese melanocortin-4-receptor (MC4R) deficient subjects: A newly described expression of MC4R deficiency

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2008-12, Vol.147B (8), p.1547-1553

2008

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Influence of UDP-GlcNAc 2-Epimerase/ManNAc Kinase Mutant Proteins on Hereditary Inclusion Body Myopathy

Biochemistry (Easton), 2006-03, Vol.45 (9), p.2968-2977

2006

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GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors?

Neuromuscular disorders : NMD, 2023-10, Vol.33 (10), p.762-768

2023

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Mutations and polymorphisms of the skeletal muscle Î±-actin gene ( ACTA1 )

Human mutation, 2009-09, Vol.30 (9), p.1267-1277

2009

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237th ENMC International Workshop: GNE myopathy – current and future research Hoofddorp, The Netherlands, 14–16 September 2018

Neuromuscular disorders : NMD, 2019-05, Vol.29 (5), p.401-410

2019

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Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

Neurology, 2003-07, Vol.61 (1), p.145; author reply 145

2003

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The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant

Molecular neurobiology, 2017-05, Vol.54 (4), p.2928-2938

2017

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The glycomic sialylation profile of GNE Myopathy muscle cells does not point to consistent hyposialylation of individual glycoconjugates

Neuromuscular disorders : NMD, 2020-08, Vol.30 (8), p.621-630

2020

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Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMD

Human molecular genetics, 2019-10, Vol.28 (20), p.3369-3390

2019

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Colon cancer associated transcript-1: A novel RNA expressed in malignant and pre-malignant human tissues

Distinctive patterns of microRNA expression in primary muscular disorders

Mutations and polymorphisms of the skeletal muscle α-actin gene (ACTA1)

Generation and characterization of a novel gne Knockout Model in Zebrafish

Development of a microRNA-based molecular assay for the detection of papillary thyroid carcinoma in aspiration biopsy samples

In vivo and in vitro genome editing to explore GNE functions

The proteomic profile of hereditary inclusion body myopathy

The Obesogenic and Glycemic Effect of Bariatric Surgery in a Family with a Melanocortin 4 Receptor Loss-of-Function Mutation

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells

Detection of N-glycans on small amounts of glycoproteins in tissue samples and sodium dodecyl sulfate–polyacrylamide gels

Variable myopathic presentation in a single family with novel skeletal RYR1 mutation

Hereditary inclusion body myopathy and other rimmed vacuolar myopathies

UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle?

Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps

GNE is involved in the early development of skeletal and cardiac muscle

Attention deficit hyperactivity disorder in obese melanocortin-4-receptor (MC4R) deficient subjects: A newly described expression of MC4R deficiency

Influence of UDP-GlcNAc 2-Epimerase/ManNAc Kinase Mutant Proteins on Hereditary Inclusion Body Myopathy

GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors?

Mutations and polymorphisms of the skeletal muscle Î±-actin gene ( ACTA1 )

237th ENMC International Workshop: GNE myopathy – current and future research Hoofddorp, The Netherlands, 14–16 September 2018

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant

The glycomic sialylation profile of GNE Myopathy muscle cells does not point to consistent hyposialylation of individual glycoconjugates

Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMD

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