V. Laugel

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Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome

A. Epanchintsev, J. Egly, A. Sarasin, 2020, Scientific Reports.

Next generation sequencing for molecular diagnosis of neuromuscular diseases Nasim VasliJohann BohmStephanie Le GrasJean MullerCecile PizotBernard Jost • Andoni Echaniz-LagunaVincent LaugelChristine TranchantRafaelle BernardFrederic Plewniak • Serge VicaireNicolas LevyJamel ChellyJean-Louis MandelVa

J. Chelly, J. Laporte, V. Laugel, 2012 .

Next generation sequencing for molecular diagnosis of neuromuscular diseases

Nasim Vasli, Jocelyn Laporte, Jean Muller, 2012, Acta Neuropathologica.

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

F. Rivier, F. Chapon, C. Richelme, 2019, Orphanet Journal of Rare Diseases.

Cockayne syndrome: a diffusion tensor imaging and volumetric study.

J. Dietemann, J. Armspach, F. Rousseau, 2016, The British journal of radiology.

Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.

S. Nevsimalova, P. Sabouraud, V. Laugel, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

J. Tolmie, E. Tobias, B. Gener, 2010, Human mutation.

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

K. Kawakami, D. Lipsker, E. Krüger, 2020, EMBO molecular medicine.

Timed function tests, motor function measure, and quantitative thigh muscle MRI in ambulant children with Duchenne muscular dystrophy: A cross-sectional analysis

O. Bieri, M. Gloor, G. Bernert, 2018, Neuromuscular Disorders.

A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

M. Manière, A. Bloch-Zupan, H. Dollfus, 2014, Molecular Syndromology.

A possible cranio-oro-facial phenotype in

M. Schmittbuhl, A. Bloch-Zupan, H. Dollfus, 2013 .

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

L. Lagae, A. Vanderver, K. Devriendt, 2015, American journal of medical genetics. Part A.

Increased diagnostic yield in complex dystonia through exome sequencing.

N. Drouot, P. Burbaud, L. Cif, 2020, Parkinsonism & related disorders.

SCA13 causes dominantly inherited non-progressive myoclonus ataxia.

A. Durr, M. Koenig, M. Anheim, 2017, Parkinsonism & related disorders.

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

N. Drouot, H. Dollfus, J. Chelly, 2018, European Journal of Human Genetics.

Cockayne syndrome

V. Laugel, G. Prantera, L. Proietti-De-Santis, 2019, Chromatin Signaling and Neurological Disorders.

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

N. Drouot, A. Durr, M. Koenig, 2016, Journal of Neurology.

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

V. Fraix, L. Kremer, M. Koenig, 2021, Genetics in Medicine.

Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.

A. Lehmann, A. Gratchev, A. Sarasin, 2008, DNA repair.

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice

Hala G. Zahreddine, A. Buj-Bello, J. Mandel, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.

S. Mundlos, M. Spielmann, T. Strom, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Multiple Intracranial Tuberculomas Associated With Partial Status Epilepticus and Refractory Infantile Spasms

Anne de Saint Martin, V. Laugel, M. Fischbach, 2008, Journal of child neurology.

Three new BLM gene mutations associated with Bloom syndrome.

D. Stoppa-Lyonnet, A. Barakat, J. Couturier, 2008, Genetic testing.

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

M. Kubota, A. Lehmann, D. Orioli, 2018, Journal of Medical Genetics.

223 A DNA-repair independent pathomechanism in Cockayne syndrome

F. Tuorto, P. Maity, R. Parlato, 2017 .

A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage

P. Hanawalt, A. Sarasin, G. Spivak, 2009, Proceedings of the National Academy of Sciences.

Deletion of 5′ sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome

H. Dollfus, I. Desguerre, J. Egly, 2008, European Journal of Human Genetics.

Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B

N. Calmels, C. Obringer, V. Laugel, 2022, Frontiers in Genetics.

Diagnostic and severity scores for Cockayne syndrome

N. Calmels, C. Obringer, V. Laugel, 2021, Orphanet Journal of Rare Diseases.

Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome.

F. Tuorto, P. Maity, L. Montanaro, 2018, Cell reports.

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

B. Gener, C. Depienne, S. Julia, 2016, Orphanet Journal of Rare Diseases.

Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome.

D. Lipsker, H. Dollfus, V. Laugel, 2013, JAMA dermatology.

Cockayne syndrome: The expanding clinical and mutational spectrum

V. Laugel, 2013, Mechanisms of Ageing and Development.

Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study

L. Servais, J. Hogrel, P. Carlier, 2020, Annals of clinical and translational neurology.

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

V. Laugel, H. Guet-Revillet, R. Cohen, 2019, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

R. Pfundt, C. Creuzot-Garcher, P. Calvas, 2016, European Journal of Human Genetics.

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

F. Rivier, C. Richelme, G. Bassez, 2019, Neurology.

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

S. Julia, M. Cossée, J. Mandel, 2011, American journal of medical genetics. Part A.

A pediatric case of Fisher-Bickerstaff spectrum.

M. Tsapis, V. Laugel, M. Fischbach, 2010, Pediatric neurology.

International retrospective natural history study of LMNA-related congenital muscular dystrophy

E. Mercuri, F. Muntoni, T. Pierson, 2021, Brain communications.

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

L. P. Castro, B. Gener, C. Menck, 2020, Mutation research.

Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations

Benjamin Montagne, M. Ricchetti, S. Abdelhak, 2022, Orphanet Journal of Rare Diseases.

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features

D. Lipsker, J. Mandel, A. Weingertner, 2016, Prenatal diagnosis.

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

J. Tolmie, E. Tobias, V. Drouin‐Garraud, 2008, Journal of Medical Genetics.

Clinical Trial Initiation Procedures in Europe: The Legal Framework and Practical Aspects*

C. Legrand, V. Laugel, F. Cheix, 1995 .

Molecular and clinical descriptions of patients with GABAA receptor gene variants ( GABRA1, GABRB2, GABRB3, GABRG2 ): A cohort study, review of literature, and genotype–phenotype correlation

R. Nabbout, D. Ville, B. Desnous, 2022, Epilepsia.

Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study

C. Richelme, P. Sabouraud, S. Quijano-roy, 2020, Orphanet Journal of Rare Diseases.

Effects of Antenatal Antibiotics on the Incidence and Bacteriological Profile of Early-Onset Neonatal Sepsis

P. Kuhn, J. Messer, V. Laugel, 2003, Neonatology.

Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia

Y. Crow, J. Gleeson, D. Rodriguez, 2014, Neuropediatrics.

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.

N. Romero, A. Ferry, J. Laporte, 2014, The Journal of clinical investigation.

Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype

L. Servais, J. Hogrel, F. Leturcq, 2015, Journal of neuromuscular diseases.

Benign hereditary chorea: From benign to serious.

J. Chelly, M. Anheim, V. Laugel, 2020, Revue neurologique (Paris).

The peritoneal membrane: a dynamic dialysis membrane in children.

P. Helms, B. Haraldsson, V. Laugel, 2003, Advances in peritoneal dialysis. Conference on Peritoneal Dialysis.

Daily on-line haemodiafiltration: a pilot trial in children.

P. Helms, V. Laugel, C. Dheu, 2004, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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

A. Helmstetter, V. Laugel, J. Terzic, 2003, Pediatric Nephrology.

S. Coppens, L. Servais, N. Romero, 2022, Acta neuropathologica communications.

Growth charts in Cockayne syndrome type 1 and type 2.

M. Kubota, P. Kang, S. Mohammed, 2020, European journal of medical genetics.

A possible cranio-oro-facial phenotype in Cockayne syndrome

M. Schmittbuhl, A. Bloch-Zupan, H. Dollfus, 2013, Orphanet Journal of Rare Diseases.

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

M. Vidailhet, A. Afenjar, J. Saudubray, 2008, Brain : a journal of neurology.

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

A. Epanchintsev, V. Bohr, J. Egly, 2013, Proceedings of the National Academy of Sciences.

Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy

A. Afenjar, B. Gérard, A. Piton, 2021, American journal of medical genetics. Part A.

Neonatal management of symptomatic transplacental cryoglobulinaemia

J. Sibilia, J. Messer, V. Laugel, 2004, Acta paediatrica.

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

N. Drouot, M. Koenig, D. Stoppa-Lyonnet, 2010, neurogenetics.

Successful management of neonatal cryoglobulinaemia after a gemellar pregnancy in a woman with symptomatic type I cryoglobulinaemia

J. Sibilia, O. Feugeas, J. Messer, 2004, Annals of the rheumatic diseases.

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

B. Weschke, M. Verbeek, G. Mancini, 2010, Brain : a journal of neurology.

Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B

M. Ricchetti, N. Calmels, C. Obringer, 2021, Genes.

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

A. Singleton, M. Vidailhet, A. Durr, 2018, JAMA neurology.

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Frédéric Tran Mau-Them, Jean-François Deleuze, Elise Schaefer, 2017, American journal of human genetics.

Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy

L. Servais, F. Leturcq, I. Desguerre, 2020, Annals of neurology.

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

I. Nishino, C. Wallgren‐Pettersson, J. Mandel, 2011, Acta Neuropathologica.

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

K. Kawakami, D. Lipsker, E. Krüger, 2019, bioRxiv.

Heterogeneous clinical features in Cockayne syndrome-A patients with the same mutation and in siblings

Benjamin Montagne, M. Ricchetti, S. Abdelhak, 2021 .

Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype

V. Biancalana, J. Böhm, J. Laporte, 2012, European Journal of Human Genetics.

Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study

L. Servais, J. Hogrel, P. Carlier, 2018, PloS one.

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

L. Servais, F. Leturcq, P. Sabouraud, 2013, Neuromuscular Disorders.

Cockayne's Syndrome A and B Proteins Regulate Transcription Arrest after Genotoxic Stress by Promoting ATF3 Degradation.

A. Epanchintsev, T. Ye, J. Egly, 2017, Molecular cell.

Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

J. Rosenfeld, K. Flanigan, K. Wierenga, 2019, Genetics in Medicine.

Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates

M. Cossée, J. Mandel, A. Echaniz-Laguna, 2008, European Journal of Pediatrics.

Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature

R. Favre, J. Chelly, N. Calmels, 2020, American journal of medical genetics. Part A.

Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome

A. Epanchintsev, J. Egly, A. Sarasin, 2020, Scientific Reports.

Neuroimaging In Cockayne Syndrome

I. Namer, H. Dollfus, V. Laugel, 2010, American Journal of Neuroradiology.

Effect of Combination l-Citrulline and Metformin Treatment on Motor Function in Patients With Duchenne Muscular Dystrophy

L. Hemkens, O. Bieri, N. Gueven, 2019, JAMA network open.

[Diagnosis and natural history of Duchenne muscular dystrophy].

I. Desguerre, V. Laugel, 2015, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Renal disease in Cockayne syndrome.

K. Fieggen, K. Pillay, N. Calmels, 2019, European journal of medical genetics.

Effect of peritoneal dialysis fluid composition on peritoneal area available for exchange in children.

B. Haraldsson, V. Laugel, J. Terzic, 2004, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

The Influence of Peritoneal Surface Area on Dialysis Adequacy

P. Helms, B. Haraldsson, V. Laugel, 2005, Peritoneal dialysis international : journal of the International Society for Peritoneal Dialysis.

Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome

A. Echaniz-Laguna, S. Quijano-roy, I. Desguerre, 2015, Clinical Neurophysiology.

Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling

S. Julia, T. Félix, J. Chelly, 2020, Clinical genetics.

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

A. Munnich, P. Rustin, L. Pasquier, 2005, Archives of Disease in Childhood.

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

A. Lehmann, M. Kinali, H. Fassihi, 2023, Pediatric neurology.

Teaching NeuroImages: The syndrome of cutaneous photosensitivity, growth failure, and basal ganglia calcification

A. Saini, N. Calmels, V. Laugel, 2016, Neurology.