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R.Y. Carlier
R.Y. Carlier
French Institute of Health and Medical Research
Muscular dystrophy
Muscle biopsy
Muscle weakness
gene mutation
Distal Myopathies
3
Papers
6
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0
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Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy
2020
Molecular genetics and metabolism reports
Claire Lefeuvre
Stéphane Schaeffer
R.Y. Carlier
Maxime Fournier
Françoise Chapon
Valérie Biancalana
Guillaume Nicolas
Edoardo Malfatti
Pascal Laforêt
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A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency.
2020
Annals of clinical and translational neurology
Aurélien Perrin
Corinne Metay
Marcello Villanova
R.Y. Carlier
Elena Pegoraro
Raul Juntas-Morales
Tanya Stojkovic
Isabelle Richard
Pascale Richard
Norma B. Romero
Henk Granzier
Michel Koenig
Edoardo Malfatti
Mireille Cossée
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X-linked Emery-Dreifuss muscle dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures
2019
Neuromuscular Disorders
Marion Brisset
Rabah Ben Yaou
R.Y. Carlier
Anaїs Chanut
Guillaume Nicolas
Norma B. Romero
Karim Wahbi
Camille Decrocq
Pascal Laforêt
Edoardo Malfatti
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Citations (2)
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