P. Sabouraud

发表

Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy

F. Chapon, R. Carlier, A. Echaniz-Laguna, 2014 .

Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients

F. Rivier, S. Matecki, P. Sabouraud, 2021, International journal of molecular sciences.

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.

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.

Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy

F. Chapon, R. Carlier, A. Echaniz-Laguna, 2014, Neurology.

Moyamoya disease associated with hereditary spherocytosis.

P. Sabouraud, N. Bednarek, M. Abély, 2011, Pediatric neurology.

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

A. Toutain, Olivier Tassy, D. Lacombe, 2012, European Journal of Human Genetics.

Hereditary sensory neuropathy with spastic paraplegia.

P. Sabouraud, J. Motte, N. Bednarek, 2004, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

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

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

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

High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients

F. Muntoni, V. Sardone, E. Ricci, 2021, Journal of neuropathology and experimental neurology.

OP-JNEN210096 1..11

F. Muntoni, V. Sardone, E. Ricci, 2021 .

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

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

Midbrain disconnection: an aetiology of severe central neonatal hypotonia.

P. Sabouraud, J. Motte, N. Bednarek, 2005, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Economic impact of healthcare-associated rotavirus infection in a paediatric hospital.

P. Sabouraud, L. Andréoletti, O. Bajolet, 2003, The Journal of hospital infection.

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.

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

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

Utility of short-latency evoked potentials in the classification of progressive, early onset cerebellar ataxias.

P. Sabouraud, J. Mathieu, F. Mauguière, 1990, Electroencephalography and clinical neurophysiology. Supplement.

Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature.

P. Birembaut, P. Sabouraud, H. Sartelet, 2008, Pathology, research and practice.

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.

Familial rectal pain: a familial autonomic disorder as a cause of paroxysmal attacks in the newborn baby.

P. Sabouraud, P. Plouin, J. Motte, 2005, Epileptic disorders : international epilepsy journal with videotape.

PRRT2 mutations cause hemiplegic migraine

C. Depienne, A. Trébuchon, P. Sabouraud, 2012, Neurology.

Unusual consequences of status epilepticus in Dravet syndrome

N. Boddaert, C. Depienne, P. Sabouraud, 2010, Seizure.

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

R. Porcher, É. Marijon, A. Lazarus, 2019, Circulation.

Early Onset of Sleep-Disordered Breathing in Two Children With SEPN1-Related Myopathies.

P. Sabouraud, H. Trang, F. Chéliout-Héraut, 2017, Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine.

[Bilateral frontal polymicrogyria and Ehlers-Danlos syndrome].

P. Sabouraud, J. Motte, N. Bednarek, 2005, Archives de pédiatrie.

[Multicentric study of medical care and practices in spinal muscular atrophy type 1 over two 10-year periods].

M. Mayer, B. Estournet, P. Sabouraud, 2014, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports

F. Rivier, P. Sabouraud, C. Barnérias, 2020, Frontiers in Pediatrics.

Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei.

A. Boland, J. Deleuze, P. Sabouraud, 2018, Journal of neuromuscular diseases.

[Ifosfamide induced encephalopathy: 15 observations].

A. Paci, J. Grill, P. Sabouraud, 2006, Archives de pédiatrie.