R. Carlier

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

Matthias Baumann, Cecilia Giunta, Birgit Krabichler et al. · The American Journal of Human Genetics · 2012 · 159 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

CORE-ROD MYOPATHY CAUSED BY MUTATIONS IN THE NEBULIN GENE

Norma B. Romero, Vilma‐Lotta Lehtokari, Susana Quijano-Roy et al. · Neurology · 2009 · 102 citations

Medicine, Genetics, Molecular Genetics +17

PHENOTYPE OF A PATIENT WITH RECESSIVE CENTRONUCLEAR MYOPATHY AND A NOVEL <i>BIN1</i> MUTATION

Kristl G. Claeys, Thierry Maisonobe, Johann Böhm et al. · Neurology · 2010 · 80 citations

Medicine, Genetics, Molecular Genetics +14

2022 SPILF - Clinical Practice guidelines for the diagnosis and treatment of disco-vertebral infection in adults

Marion Lacasse, Sophie Derolez, É. Bonnet et al. · Infectious Diseases Now · 2023 · 61 citations

Medicine, Orthopaedic Surgery, Orthopedic Surgery +14

Evaluation of the effectiveness of botulinum toxin injections in the lower limb muscles of children with cerebral palsy. Preliminary prospective study of the advantages of ultrasound guidance

Anne-Gaëlle Py, G. Zein Addeen, Y. Perrier et al. · Annals of Physical and Rehabilitation Medicine · 2009 · 56 citations

Medicine, Child Health, Pediatrics +15