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Diagnostic and severity scores for Cockayne syndrome

Orphanet journal of rare diseases, 2021-02, Vol.16 (1), p.63-63, Article 63

2021

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Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease

Journal of human genetics, 2020-03, Vol.65 (3), p.313-323

2020

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COVID-19 in children at Strasbourg University Hospital: A retrospective study of the first 2months of the epidemic

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2021-07, Vol.28 (5), p.405-410

2021

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Benign hereditary chorea: From benign to serious

Revue neurologique, 2020-05, Vol.176 (4), p.295-296

2020

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The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil

Mutation research, 2020-04, Vol.852, p.503164-503164, Article 503164

2020

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Neuroimaging In Cockayne Syndrome

American journal of neuroradiology : AJNR, 2010-10, Vol.31 (9), p.1623-1630

2010

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Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

Neurogenetics, 2010-02, Vol.11 (1), p.1-12

2010

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Diagnosis and natural history of Duchenne muscular dystrophy

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2015-12, Vol.22 (12 Suppl 1), p.12S24-12S30

2015

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Lyme neuroborreliosis in children: Report of nine cases and a review of the literature

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2019-04, Vol.26 (3), p.133-137

2019

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The Lipid Phosphatase Myotubularin Is Essential for Skeletal Muscle Maintenance but Not for Myogenesis in Mice

Proceedings of the National Academy of Sciences - PNAS, 2002-11, Vol.99 (23), p.15060-15065

2002

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Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation

Journal of medical genetics, 2008-09, Vol.45 (9), p.564-571

2008

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The place of neuropathy in the early diagnosis of Cockayne syndrome: Report on two siblings

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2017-04, Vol.24 (4), p.353-359

2017

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Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum

Brain (London, England : 1878), 2008-03, Vol.131 (3), p.760-761

2008

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Reducing dynamin 2 rescues a severe congenital myopathy in mice

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S314-S314

2015

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Baseline data from a European prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy – NatHis-SMA

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S103-S103

2016

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Feasibility of magneto-inertial motion analysis in non-ambulant patients with spinal muscular atrophy

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S102-S102

2016

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PP05.10 – 3086: Cockayne syndrome and DNA repair disorders: Novel expanding neurological phenotype

European journal of paediatric neurology, 2015-05, Vol.19, p.S48-S49

2015

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Measurement of hydrostatic intraperitoneal pressure: a useful tool for the improvement of dialysis dose prescription

Pediatric nephrology (Berlin, West), 2003-10, Vol.18 (10), p.976-980

2003

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G.O.22

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.921-922

2014

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A European prospective study of the natural history of patients with type 2 and 3 spinal muscular atrophy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S195-S195

2015

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Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays

Archives of disease in childhood, 2006-02, Vol.91 (2), p.178-182

2006

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P.20.14 Non ambulant patients with deletion treatable by exon skipping 53 present a more severe phenotype than the general Duchenne population

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.843-843

2013

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COVID-19 in children at Strasbourg University Hospital: A retrospective study of the first 2 months of the epidemic

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2021-07, Vol.28 (5), p.405-410

2021

Volltextzugriff (PDF)

Diagnostic et histoire naturelle de la dystrophie musculaire de Duchenne

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2015-12, Vol.22 (12), p.12S24-12S30

2015

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Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stress

Proceedings of the National Academy of Sciences - PNAS, 2013-06, Vol.110 (25), p.E2261-E2270

2013

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Diagnostic and severity scores for Cockayne syndrome

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease

COVID-19 in children at Strasbourg University Hospital: A retrospective study of the first 2months of the epidemic

Benign hereditary chorea: From benign to serious

The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil

Neuroimaging In Cockayne Syndrome

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

Diagnosis and natural history of Duchenne muscular dystrophy

Lyme neuroborreliosis in children: Report of nine cases and a review of the literature

The Lipid Phosphatase Myotubularin Is Essential for Skeletal Muscle Maintenance but Not for Myogenesis in Mice

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation

The place of neuropathy in the early diagnosis of Cockayne syndrome: Report on two siblings

Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum

Reducing dynamin 2 rescues a severe congenital myopathy in mice

Baseline data from a European prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy – NatHis-SMA

Feasibility of magneto-inertial motion analysis in non-ambulant patients with spinal muscular atrophy

PP05.10 – 3086: Cockayne syndrome and DNA repair disorders: Novel expanding neurological phenotype

Measurement of hydrostatic intraperitoneal pressure: a useful tool for the improvement of dialysis dose prescription

G.O.22

A European prospective study of the natural history of patients with type 2 and 3 spinal muscular atrophy

Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays

P.20.14 Non ambulant patients with deletion treatable by exon skipping 53 present a more severe phenotype than the general Duchenne population

COVID-19 in children at Strasbourg University Hospital: A retrospective study of the first 2 months of the epidemic

Diagnostic et histoire naturelle de la dystrophie musculaire de Duchenne

Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stress

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