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How the EUCERD Joint Action supported initiatives on Rare Diseases

European journal of medical genetics, 2017-03, Vol.60 (3), p.185-189

2017

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Interventions for muscular dystrophy: molecular medicines entering the clinic

The Lancet (British edition), 2009-11, Vol.374 (9704), p.1849-1856

2009

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Selective neuronal vulnerability and inadequate stress response in superoxide dismutase mutant mice

Free radical biology & medicine, 2005-03, Vol.38 (6), p.817-828

2005

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Variation in the Calpain-10 Gene Affects Blood Glucose Levels in the British Population

Diabetes (New York, N.Y.), 2002-01, Vol.51 (1), p.247-250

2002

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Education at Burwood Hospital

Nursing New Zealand (Wellington, N.Z. : 1995), 2013-05, Vol.19 (4), p.5

Stephen, Lynn

2013

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The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks

Orphanet journal of rare diseases, 2016-02, Vol.11 (17), p.17-17, Article 17

2016

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Defining the Importance of Mitochondrial Gene Defects in Maternally Inherited Diabetes by Sequencing the Entire Mitochondrial Genome

Diabetes (New York, N.Y.), 2002-07, Vol.51 (7), p.2317-2320

2002

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The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1116-1123

2015

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Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2015-01, Vol.25 (1), p.96-105

2015

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The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: Report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009

Neuromuscular disorders : NMD, 2010-05, Vol.20 (5), p.355-362

Muntoni, F

2010

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Familial myopathy: New insights into the T14709C mitochondrial tRNA mutation

Annals of neurology, 2004-04, Vol.55 (4), p.478-484

2004

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Decreased insulin responsiveness of glucose uptake in cultured human skeletal muscle cells from insulin-resistant nondiabetic relatives of type 2 diabetic families

Diabetes (New York, N.Y.), 2000-07, Vol.49 (7), p.1169-1177

2000

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Mitochondrial diabetes: investigation and identification of a novel mutation

Diabetes (New York, N.Y.), 1998-11, Vol.47 (11), p.1800-1802

1998

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Basic properties of a novel ryanodine-sensitive, caffeine-insensitive calcium-induced calcium release mechanism in permeabilised human vascular smooth muscle cells

FEBS letters, 1995-06, Vol.367 (1), p.23-27

1995

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Isolation and partial cloning of ryanodine‐sensitive Ca2+ release channel protein isoforms from human myometrial smooth muscle

FEBS letters, 1995-09, Vol.372 (1), p.6-12

1995

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A novel ryanodine sensitive calcium release mechanism in cultured human myometrial smooth-muscle cells

FEBS letters, 1993-09, Vol.330 (2), p.227-230

1993

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The superiority of combination chemotherapy over single agent chemotherapy in small cell lung carcinoma

Cancer, 1979-08, Vol.44 (2), p.406-413

1979

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Human pepsin 1, a complex of proteoglycan and protein

Biochemical Society transactions, 1992-11, Vol.20 (4), p.356S-356S

1992

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Deglycosylation of cartilage proteoglycans and their T cell responses

Biochemical Society transactions, 1991-11, Vol.19 (4), p.386S-386S

1991

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Comparative analysis of murine T lymphocyte responses to cartilage proteoglycans

Journal of autoimmunity, 1991-10, Vol.4 (5), p.743-753

1991

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Exercise Guidelines for Cancer Survivors: Consensus Statement from International Multidisciplinary Roundtable

Medicine and science in sports and exercise, 2019-11, Vol.51 (11), p.2375-2390

2019

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The generation of antibody-secreting plasma cells

Nature reviews. Immunology, 2015-03, Vol.15 (3), p.160-171

2015

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The Prognostic Implications of Tumor Infiltrating Lymphocytes in Colorectal Cancer: A Systematic Review and Meta-Analysis

Scientific reports, 2020-02, Vol.10 (1), p.3360-3360, Article 3360

2020

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Tumor-secreted exosomal miR-141 activates tumor-stroma interactions and controls premetastatic niche formation in ovarian cancer metastasis

Molecular cancer, 2023-01, Vol.22 (1), p.4-4, Article 4

2023

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RIPK3 promotes cell death and NLRP3 inflammasome activation in the absence of MLKL

Nature communications, 2015-02, Vol.6 (1), p.6282-6282, Article 6282

2015

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How the EUCERD Joint Action supported initiatives on Rare Diseases

Interventions for muscular dystrophy: molecular medicines entering the clinic

Selective neuronal vulnerability and inadequate stress response in superoxide dismutase mutant mice

Variation in the Calpain-10 Gene Affects Blood Glucose Levels in the British Population

Education at Burwood Hospital

The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks

Defining the Importance of Mitochondrial Gene Defects in Maternally Inherited Diabetes by Sequencing the Entire Mitochondrial Genome

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy

The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: Report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009

Familial myopathy: New insights into the T14709C mitochondrial tRNA mutation

Decreased insulin responsiveness of glucose uptake in cultured human skeletal muscle cells from insulin-resistant nondiabetic relatives of type 2 diabetic families

Mitochondrial diabetes: investigation and identification of a novel mutation

Basic properties of a novel ryanodine-sensitive, caffeine-insensitive calcium-induced calcium release mechanism in permeabilised human vascular smooth muscle cells

Isolation and partial cloning of ryanodine‐sensitive Ca2+ release channel protein isoforms from human myometrial smooth muscle

A novel ryanodine sensitive calcium release mechanism in cultured human myometrial smooth-muscle cells

The superiority of combination chemotherapy over single agent chemotherapy in small cell lung carcinoma

Human pepsin 1, a complex of proteoglycan and protein

Deglycosylation of cartilage proteoglycans and their T cell responses

Comparative analysis of murine T lymphocyte responses to cartilage proteoglycans

Exercise Guidelines for Cancer Survivors: Consensus Statement from International Multidisciplinary Roundtable

The generation of antibody-secreting plasma cells

The Prognostic Implications of Tumor Infiltrating Lymphocytes in Colorectal Cancer: A Systematic Review and Meta-Analysis

Tumor-secreted exosomal miR-141 activates tumor-stroma interactions and controls premetastatic niche formation in ovarian cancer metastasis

RIPK3 promotes cell death and NLRP3 inflammasome activation in the absence of MLKL

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