Lista de obras - Christiane Schneider-Gold

CCUG repeats reduce the rate of global protein synthesis in myotonic dystrophy type 2.

artículo científico publicado en 2010

Cardiac and skeletal muscle involvement in myotonic dystrophy type 2 (DM2): a quantitative 31P-MRS and MRI study.

artículo científico publicado en 2004

Clinical Spectrum of Homozygous and Heterozygous PINK1 Mutations in a Large German Family With Parkinson Disease

article

Cortical and Subcortical Grey and White Matter Atrophy in Myotonic Dystrophies Type 1 and 2 Is Associated with Cognitive Impairment, Depression and Daytime Sleepiness

artículo científico publicado en 2015

Corticosteroids for myasthenia gravis

artículo científico publicado en 2005

Creatine monohydrate in DM2/PROMM: a double-blind placebo-controlled clinical study. Proximal myotonic myopathy.

artículo científico publicado en 2003

Current and future standards in treatment of myasthenia gravis

artículo científico publicado en 2008

Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial

artículo científico publicado en 2016

Ectopic expression of cyclin D3 corrects differentiation of DM1 myoblasts through activation of RNA CUG-binding protein, CUGBP1.

artículo científico publicado en 2008

Evaluation of CNS involvement in myotonic dystrophy type 1 and type 2 by transcranial sonography

artículo científico publicado en 2014

Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells

artículo científico publicado en 2010

Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients

scientific article published on 09 July 2009

GSK3β mediates muscle pathology in myotonic dystrophy

artículo científico publicado en 2012

Glia cells in amyotrophic lateral sclerosis: new clues to understanding an old disease?

artículo científico publicado en 2007

Grey and white matter loss along cerebral midline structures in myotonic dystrophy type 2.

artículo científico publicado en 2008

LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments

article

Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report

artículo científico publicado en 2012

Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A)

article

Muscle pathology in 57 patients with myotonic dystrophy type 2

scholarly article by Benedikt Schoser et al published 2 January 2004 in Muscle and Nerve

Musculoskeletal Pain in Patients With Myotonic Dystrophy Type 2

artículo científico publicado en 2004

Muskuloskelettaler Schmerz als Hauptsymptom bei myotoner Dystrophie Typ 2

artículo científico publicado en 2006

Myasthenia gravis

scientific article published on 01 January 2004

Mycophenolate mofetil and tacrolimus: new therapeutic options in neuroimmunological diseases

artículo científico publicado en 2006

Neuroleptic malignant syndrome in Kufs' disease.

artículo científico publicado en 2003

Oculomotor signs in Lambert-Eaton myasthenic syndrome?coincidence with myasthenia gravis

artículo científico publicado en 2003

Outcome and effect of pregnancy in myotonic dystrophy type 2

scientific article published on 01 February 2006

Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family

artículo científico publicado en 2007

Pregnancy and delivery of a healthy baby in autoimmune Lambert-Eaton myasthenic syndrome

artículo científico publicado en 2006

RNA Foci, CUGBP1, and ZNF9 are the primary targets of the mutant CUG and CCUG repeats expanded in myotonic dystrophies type 1 and type 2

artículo científico publicado en 2011

Reduction of the rate of protein translation in patients with myotonic dystrophy 2

artículo científico publicado en 2009

Side effects of anesthesia in DM2 as compared to DM1: a comparative retrospective study

artículo científico publicado en 2010

SonoGraphic monitoring of severe focal B-cell myositis of the anterior calf muscle responsive to rituximab

Subcutaneous immunoglobulin infusion: A new therapeutic option in chronic inflammatory demyelinating polyneuropathy

scientific article published on 01 March 2008

Successful treatment of anti-Caspr2 syndrome by interleukin 6 receptor blockade through tocilizumab

artículo científico publicado en 2013

Sudden cardiac death in myotonic dystrophy type 2.

artículo científico publicado en 2004

The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease

artículo científico publicado en 2011

Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero

artículo científico publicado en 2010

Lista de obras de Christiane Schneider-Gold

CCUG repeats reduce the rate of global protein synthesis in myotonic dystrophy type 2.

Cardiac and skeletal muscle involvement in myotonic dystrophy type 2 (DM2): a quantitative 31P-MRS and MRI study.

Clinical Spectrum of Homozygous and Heterozygous PINK1 Mutations in a Large German Family With Parkinson Disease

Cortical and Subcortical Grey and White Matter Atrophy in Myotonic Dystrophies Type 1 and 2 Is Associated with Cognitive Impairment, Depression and Daytime Sleepiness

Corticosteroids for myasthenia gravis

Creatine monohydrate in DM2/PROMM: a double-blind placebo-controlled clinical study. Proximal myotonic myopathy.

Current and future standards in treatment of myasthenia gravis

Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial

Ectopic expression of cyclin D3 corrects differentiation of DM1 myoblasts through activation of RNA CUG-binding protein, CUGBP1.

Evaluation of CNS involvement in myotonic dystrophy type 1 and type 2 by transcranial sonography

Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells

Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients

GSK3β mediates muscle pathology in myotonic dystrophy

Glia cells in amyotrophic lateral sclerosis: new clues to understanding an old disease?

Grey and white matter loss along cerebral midline structures in myotonic dystrophy type 2.

LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments

Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report

Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A)

Muscle pathology in 57 patients with myotonic dystrophy type 2

Musculoskeletal Pain in Patients With Myotonic Dystrophy Type 2

Muskuloskelettaler Schmerz als Hauptsymptom bei myotoner Dystrophie Typ 2

Myasthenia gravis

Mycophenolate mofetil and tacrolimus: new therapeutic options in neuroimmunological diseases

Neuroleptic malignant syndrome in Kufs' disease.

Oculomotor signs in Lambert-Eaton myasthenic syndrome?coincidence with myasthenia gravis

Outcome and effect of pregnancy in myotonic dystrophy type 2

Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family

Pregnancy and delivery of a healthy baby in autoimmune Lambert-Eaton myasthenic syndrome

RNA Foci, CUGBP1, and ZNF9 are the primary targets of the mutant CUG and CCUG repeats expanded in myotonic dystrophies type 1 and type 2

Reduction of the rate of protein translation in patients with myotonic dystrophy 2

Side effects of anesthesia in DM2 as compared to DM1: a comparative retrospective study

SonoGraphic monitoring of severe focal B-cell myositis of the anterior calf muscle responsive to rituximab

Subcutaneous immunoglobulin infusion: A new therapeutic option in chronic inflammatory demyelinating polyneuropathy

Successful treatment of anti-Caspr2 syndrome by interleukin 6 receptor blockade through tocilizumab

Sudden cardiac death in myotonic dystrophy type 2.

The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease

Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero