Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC 16A2 mutations - Archive ouverte HAL
Journal Articles Developmental Medicine and Child Neurology Year : 2019

Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC 16A2 mutations

Ganaelle Remerand
Odile Boespflug‐tanguy
  • Function : Author
Davide Tonduti
Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies
Renaud Touraine
  • Function : Author
Service de Génétique Clinique Chromosomique et Moléculaire
Diana Rodriguez
  • Function : Author
  • PersonId : 886370
Affections de la Myeline et des Canaux Ioniques Musculaires
Aurore Curie
Institut des Sciences cognitives Marc Jeannerod - Laboratoire sur le langage, le cerveau et la cognition
Nathalie Perreton
  • Function : Author
CIC CHU Lyon (inserm)
Vincent Des Portes
  • Function : Author
  • PersonId : 945682
Laboratoire sur le langage, le cerveau et la cognition
Catherine Sarret
Institut Pascal
Alexandra Afenjar
  • Function : Author
  • PersonId : 902592
Lydie Burglen
  • Function : Author
  • PersonId : 922031
CHU Trousseau [APHP]
Barbara Castellotti
  • Function : Author
Danielle Cuntz
  • Function : Author
Isabelle Desguerre
  • Function : Author
Service de neurologie pédiatrique [CHU Necker]
Diane Doummar
  • Function : Author
  • PersonId : 953196
Service: neuropédiatrie pathologie du développement
Margherita Estienne
  • Function : Author
Elena Freri
  • Function : Author
Delphine Héron
  • Function : Author
Institut de Myologie
Marie‐laure Moutard
  • Function : Author
Francesca Novara
  • Function : Author
Cytogenetics
Simona Orcesi
Fondation "Neurological Institute C. Mondino "
Veronica Saletti
  • Function : Author
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Federica Zibordi
  • Function : Author

Domains

Genetics Human genetics

Catherine SARRET  : Connect in order to contact the contributor

https://hal.science/hal-02267879

Submitted on : Tuesday, August 20, 2019-12:02:19 AM

Last modification on : Wednesday, April 3, 2024-10:20:13 AM

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hal-02267879 , version 1 (20-08-2019)

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Ganaelle Remerand, Odile Boespflug‐tanguy, Davide Tonduti, Renaud Touraine, Diana Rodriguez, et al.. Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC 16A2 mutations. Developmental Medicine and Child Neurology, 2019, 61 (12), pp.1439-1447. ⟨10.1111/dmcn.14332⟩. ⟨hal-02267879⟩

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ENS-LYON CEA UNIV-PARIS7 PRES_CLERMONT CNRS UNIV-LYON1 INSTITUT_PASCAL USPC CEA-DRF SORBONNE-UNIVERSITE SU-MEDECINE UDL
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