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The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development

Orphanet journal of rare diseases, 2015-04, Vol.10 (1), p.49, Article 49

2015

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Triphenylphosphonioacetylide: A Species Isoelectronic with Isocyanides

Angewandte Chemie International Edition, 1998-02, Vol.37 (3), p.338-342

1998

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Eien methode zur Überführung von Acylalkylidentriphenylphosphoranen in Thioacylalkylidentriphenylphosphorane

Tetrahedron letters, 1992, Vol.33 (40), p.5955-5958

1992

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ChemInform Abstract: A Method for Transformation of Acylalkylidenetriphenylphosphoranes into Thioacylalkylidenetriphenylphosphoranes

ChemInform, 1993-03, Vol.24 (12), p.no-no

1993

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Muscular Dystrophy Campaign: Putting Some Financial Muscle Behind Finding a Cure

Stem cells translational medicine, 2012-04, Vol.1 (4), p.261-262

Pohlschmidt, Marita

2012

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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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Pain and quality of life in the UK FSHD patient registry

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S214-S214

2015

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The European NeuroMuscular Centre (ENMC): 20 years on

Neuromuscular disorders : NMD, 2013-04, Vol.23 (4), p.375-376

2013

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P97 New patient registries for Myotonic dystrophy and Facioscapulohumeral muscular dystrophy in the United Kingdom

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S34-S34

2012

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G.P.93 - Pain and quality of life in the UK FSHD patient registry

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S214-S214

2015

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RNAi-mediated knockdown of dystrophin expression in adult mice does not lead to overt muscular dystrophy pathology

Human molecular genetics, 2008-09, Vol.17 (17), p.2622-2632

2008

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UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry

Orphanet journal of rare diseases, 2014-11, Vol.9 (9042), p.P6-P6, Article P6

2014

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Promoter Dependence of Plasmid-Pluronics Targeted α Galactosidase A Expression in Skeletal Muscle of Fabry Mice

Molecular therapy, 2005-11, Vol.12 (5), p.985-990

2005

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Polycystic kidney disease: The complete structure of the PKD1 gene and its protein

Cell, 1995-04, Vol.81 (2), p.289-298

1995

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Thiopurine Methyltransferase Genetics Is Associated with Treatment Outcome and Hepatic Toxicity in Pediatric Patients with Acute Lymphoblastic Leukemia: a Report From the ALL-BFM Study Group

Blood, 2009-11, Vol.114 (22), p.2625-2625

2009

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Post-mitotic, differentiated myotubes efficiently produce retroviral vector from hybrid adeno-retrovirus templates

Gene therapy, 2001-10, Vol.8 (20), p.1580-1586

2001

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Promoter Dependence of Plasmid-Pluronics Targeted [alpha] Galactosidase A Expression in Skeletal Muscle of Fabry Mice

Molecular therapy, 2005-11, Vol.12 (5), p.985

2005

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Potent Dystrophin knock-Down in Vitro and in Vivo Using RNAi Technonlogy and Expression Signature of Myotubes with Dystrophin knocked Down: Attempts at Unravelling the Mystery

Iranian journal of public health, 2005-10, Vol.34 (Sup), p.64-65

2005

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Structural motifs of the PKD1 protein

Nephrology, dialysis, transplantation, 1996, Vol.11 (supp6), p.2-4

1996

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Eine methode zurüberführung von acylakylidentriphenyl-phosphoranen in thioacylalkylidentriphenylphosphorane

Tetrahedron letters, 1992-09, Vol.33 (40), p.5955-5958

1992

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Potent Dystrophin knock-Down in Vitro and in Vivo Using RNAi Technonlogy and Expression Signature of Myotubes with Dystrophin knocked Down: Attempts at Unravelling the Mystery

Iranian journal of public health, 2005-03, Vol.34 (Supple 1)

2005

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A Novel Cyclin Gene (CCNF) in the Region of the Polycystic Kidney Disease Gene (PKD1)

Genomics (San Diego, Calif.), 1994-11, Vol.24 (1), p.27-33

1994

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Human-mouse homologies in the region of the polycystic kidney disease gene ( PKD1)

Genomics (San Diego, Calif.), 1992-05, Vol.13 (1), p.35-38

1992

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Ratio of fetal to maternal DNA is less than 1 in 5000 at different gestational ages in maternal blood

Clinical genetics, 1990-07, Vol.38 (1), p.38-43

1990

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Detection of fetal DNA in maternal blood by PCR

The Lancet (British edition), 1990-05, Vol.335 (8699), p.1220-1221

1990

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The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development

Triphenylphosphonioacetylide: A Species Isoelectronic with Isocyanides

Eien methode zur Überführung von Acylalkylidentriphenylphosphoranen in Thioacylalkylidentriphenylphosphorane

ChemInform Abstract: A Method for Transformation of Acylalkylidenetriphenylphosphoranes into Thioacylalkylidenetriphenylphosphoranes

Muscular Dystrophy Campaign: Putting Some Financial Muscle Behind Finding a Cure

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

Pain and quality of life in the UK FSHD patient registry

The European NeuroMuscular Centre (ENMC): 20 years on

P97 New patient registries for Myotonic dystrophy and Facioscapulohumeral muscular dystrophy in the United Kingdom

G.P.93 - Pain and quality of life in the UK FSHD patient registry

RNAi-mediated knockdown of dystrophin expression in adult mice does not lead to overt muscular dystrophy pathology

UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry

Promoter Dependence of Plasmid-Pluronics Targeted α Galactosidase A Expression in Skeletal Muscle of Fabry Mice

Polycystic kidney disease: The complete structure of the PKD1 gene and its protein

Thiopurine Methyltransferase Genetics Is Associated with Treatment Outcome and Hepatic Toxicity in Pediatric Patients with Acute Lymphoblastic Leukemia: a Report From the ALL-BFM Study Group

Post-mitotic, differentiated myotubes efficiently produce retroviral vector from hybrid adeno-retrovirus templates

Promoter Dependence of Plasmid-Pluronics Targeted [alpha] Galactosidase A Expression in Skeletal Muscle of Fabry Mice

Potent Dystrophin knock-Down in Vitro and in Vivo Using RNAi Technonlogy and Expression Signature of Myotubes with Dystrophin knocked Down: Attempts at Unravelling the Mystery

Structural motifs of the PKD1 protein

Eine methode zurüberführung von acylakylidentriphenyl-phosphoranen in thioacylalkylidentriphenylphosphorane

Potent Dystrophin knock-Down in Vitro and in Vivo Using RNAi Technonlogy and Expression Signature of Myotubes with Dystrophin knocked Down: Attempts at Unravelling the Mystery

A Novel Cyclin Gene (CCNF) in the Region of the Polycystic Kidney Disease Gene (PKD1)

Human-mouse homologies in the region of the polycystic kidney disease gene ( PKD1)

Ratio of fetal to maternal DNA is less than 1 in 5000 at different gestational ages in maternal blood

Detection of fetal DNA in maternal blood by PCR

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