C. Gitiaux

S. Quijano-roy, C. Barnérias, I. Desguerre, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Cerebral vasculitis in severe Kawasaki disease: early detection by magnetic resonance imaging and good outcome after intensive treatment

N. Boddaert, B. Bader-Meunier, I. Desguerre, 2012, Developmental medicine and child neurology.

Presentations and outcomes of juvenile dermatomyositis patients admitted to intensive care units.

C. Bodemer, R. Salomon, B. Bader-Meunier, 2017, Rheumatology.

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy

C. Philippe, P. Jonveaux, J. Chelly, 2007, Journal of Medical Genetics.

Neuroinflammatory Disease following Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Children

N. Boddaert, Shen-Ying Zhang, I. Desguerre, 2022, The Journal of Pediatrics.

Deciphering the natural history of SCA7 in children

A. Durr, D. Devos, C. Cazeneuve, 2020, European journal of neurology.

From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

N. Boddaert, A. Kaminska, J. Pedespan, 2015, European journal of medical genetics.

Infant botulism: Report of a misleading case and important key messages.

C. Gitiaux, C. Mazuet, M. Kossorotoff, 2022, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

A critical and previously unsuspected role for doublecortin at the neuromuscular junction in mouse and human

C. Legay, S. Sigoillot, V. Bernard, 2015, Neuromuscular Disorders.

Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up

P. de Lonlay, A. Brassier, J. Arnoux, 2021, Orphanet Journal of Rare Diseases.

[Dermatomyositis: new antibody, new classification].

Y. Allenbach, C. Gitiaux, L. Bolko, 2019, Medecine sciences : M/S.

FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation

P. van Endert, A. Imbard, P. Laforêt, 2022, Neurology: Genetics.

Rituximab Therapy in the Treatment of Juvenile Myasthenia Gravis

S. Quijano-roy, C. Barnérias, I. Desguerre, 2022, Neurology.

Arterial spin labeling (ASL) magnetic resonance imaging in acute confusional migraine of childhood.

N. Boddaert, F. Brunelle, I. Desguerre, 2013, Journal of neuroradiology. Journal de neuroradiologie.

Derivation and Characterization of Immortalized Human Muscle Satellite Cell Clones from Muscular Dystrophy Patients and Healthy Individuals

F. Dilworth, I. Desguerre, B. Chazaud, 2020, Cells.

Cell sorting of various cell types from mouse and human skeletal muscle.

B. Chazaud, C. Gitiaux, C. Latroche, 2017, Methods.

Treatment and outcome of children and adolescents with N-methyl-d-aspartate receptor encephalitis

F. Ducray, J. Honnorat, J. Delattre, 2015, Journal of Neurology.

Onset and Relapse of Juvenile Dermatomyositis Following Asymptomatic SARS-CoV-2 Infection

D. Duffy, J. Herbeuval, M. Rodero, 2021, Journal of Clinical Immunology.

Dysregulation of the NRG1-ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

T. Molina, H. Smeets, R. Hofstra, 2021, The Journal of clinical investigation.

Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients

M. Vidailhet, N. Boddaert, D. Devos, 2008, Movement disorders : official journal of the Movement Disorder Society.

Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients

N. Boddaert, S. Pannier, D. Lacombe, 2022, Bone Marrow Transplantation.

Autosomal recessive primary microcephaly due to ASPM mutations: An update

K. Devriendt, C. Woods, P. Gressens, 2018, Human mutation.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

A. Munnich, C. Fallet-Bianco, I. Gut, 2021, Journal of Medical Genetics.

PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.

N. Boddaert, Y. Péréon, A. Kaminska, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Electro-clinical features in epileptic children with chromosome 15q duplication syndrome

M. Bourgeois, R. Nabbout, A. Kaminska, 2021, Clinical Neurophysiology.

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

D. Zélénika, P. Nitschké, D. Lacombe, 2013, Nature Genetics.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Eric N. Anderson, T. Strom, J. Landers, 2021, Nature Communications.

Mutations in the telomere capping complex in bone marrow failure and related syndromes

T. Vulliamy, I. Desguerre, N. Leonard, 2013, Haematologica.

Severe Acute Flaccid Myelitis Associated With Enterovirus in Children: Two Phenotypes for Two Evolution Profiles?

N. Boddaert, I. Desguerre, L. Musset, 2020, Frontiers in Neurology.

Role of vascular plasticity in muscle remodeling in the child

C. Gitiaux, 2015 .

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

I. Desguerre, M. Vincent, N. Bahi-Buisson, 2009, European Journal of Human Genetics.

Clinical features and evolution of juvenile myasthenia gravis in a French cohort

C. Barnérias, I. Desguerre, B. Chabrol, 2018, Muscle & nerve.

Early electro-clinical features may contribute to diagnosis of the anti-NMDA receptor encephalitis in children

J. Honnorat, N. Boddaert, O. Dulac, 2013, Clinical Neurophysiology.

From Diagnosis to Prognosis: Revisiting the Meaning of Muscle ISG15 Overexpression in Juvenile Inflammatory Myopathies

C. Bodemer, M. Rodero, G. Rice, 2020, Arthritis & rheumatology.

Inflammatory myopathies in childhood

H. Goebel, W. Stenzel, B. Bader-Meunier, 2021, Neuromuscular Disorders.

Orofacial motor dysfunction in Moebius syndrome

F. Denoyelle, J. Baudon, F. Renault, 2019, Developmental medicine and child neurology.

Myogenic Progenitor Cells Exhibit Type I Interferon–Driven Proangiogenic Properties and Molecular Signature During Juvenile Dermatomyositis

C. Bodemer, S. Germain, D. Duffy, 2018, Arthritis & rheumatology.

Whole microvascular unit deletions in dermatomyositis

C. Christov, F. Authier, R. Gherardi, 2012, Annals of the rheumatic diseases.

French recommendations for the management of adult & pediatric chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).

A. Echaniz-Laguna, Y. Péréon, E. Delmont, 2022, Revue neurologique.

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle

E. Malfatti, N. Romero, R. Carlier, 2016, Neuromuscular Disorders.

Carpal tunnel syndrome and finger deformities in children with mucopolysaccharidoses and mucolipidoses: a retrospective review of 52 patients

S. Pannier, C. Dana, C. Gitiaux, 2021, The Journal of hand surgery, European volume.

Diagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis: A 10 Year Experience

S. Pannier, S. Quijano-roy, I. Desguerre, 2019, Diagnostics.

Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome

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

Postdiarrheal hemolytic and uremic syndrome with severe multiorgan involvement and associated early risk factors.

R. Salomon, F. Lesage, P. Hubert, 2018, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Movement disorders in patients with alternating hemiplegia

L. Vallée, M. Bourgeois, A. Arzimanoglou, 2020, Neurology.

Brain magnetic resonance imaging pattern and outcome in children with haemolytic‐uraemic syndrome and neurological impairment treated with eculizumab

N. Boddaert, R. Salomon, I. Desguerre, 2013, Developmental medicine and child neurology.

Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy

A. Munnich, N. Boddaert, A. Rötig, 2019, Molecular genetics and metabolism reports.

Hemiconvulsion–hemiplegia syndrome revisited: longitudinal MRI findings in 10 children

N. Boddaert, F. Brunelle, O. Dulac, 2013, Developmental medicine and child neurology.

Cardiac valve involvement in ADAR-related type I interferonopathy

Y. Crow, S. Rahman, A. Giardini, 2019, Journal of Medical Genetics.

Epigenetic control of myogenic identity of human muscle stem cells in Duchenne Muscular Dystrophy

F. Dilworth, I. Desguerre, B. Chazaud, 2023, bioRxiv.

A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy

Y. Péréon, P. Cintas, C. Barnérias, 2023, Neuromuscular Disorders.

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation

N. Boddaert, A. Millischer, D. Moshous, 2017, American journal of medical genetics. Part A.

Postnatal Diagnostic Workup in Children With Arthrogryposis: A Series of 82 Patients

J. Melki, A. Neuraz, R. Carlier, 2021, Journal of child neurology.

Neuroinflammatory Disease following Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Children

N. Boddaert, Shen-Ying Zhang, I. Desguerre, 2022, The Journal of Pediatrics.

[Vaccinal status in children with seizures: a retrospective study conducted in the Bordeaux child hospital].

J. Pedespan, C. Gitiaux, P. Pillet, 2006, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

D. Zélénika, P. Nitschké, D. Lacombe, 2013, Nature Genetics.

P.415 Congenital myasthenia syndromes: clinical description of a pediatric cohort

B. Estournet, S. Quijano-roy, C. Barnérias, 2017, Neuromuscular Disorders.

Expanding the clinical spectrum of MTTF mutations

A. Munnich, N. Boddaert, A. Rötig, 2019, Molecular genetics and metabolism reports.

Sleep in infants with congenital myasthenic syndromes.

S. Caggiano, C. Barnérias, I. Desguerre, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A cognitive and affective pattern in posterior fossa strokes in children: a case series

N. Boddaert, F. Brunelle, O. Dulac, 2010, Developmental medicine and child neurology.

Repetitive Nerve Stimulation, Short and Long Exercise Tests

S. Quijano-roy, C. Gitiaux, 2017 .

De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes

C. Fallet-Bianco, J. Melki, A. Laquérriere, 2020, Journal of Medical Genetics.

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Karolina, Carlo, N. Boddaert, 2023, medRxiv.

Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.

C. Barnérias, I. Desguerre, M. Hully, 2023, Molecular genetics and metabolism.

Motor neuropathy contributes to crouching in patients with Dravet syndrome

Christine Barnerias, Catherine Chiron, Susana Quijano-Roy, 2016, Neurology.