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Human Genetics|January 11, 2003
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotypeValérie Biancalana, Olivier Caron, Sabina Gallati, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|February 29, 2024
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication interventionElana J Forbes, Lottie D Morison, Fatma Lelik, et al.Nature Genetics|August 7, 2007
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathyAnne-Sophie Nicot, Anne Toussaint, Valérie Tosch, et al.Nature Reviews. Disease Primers|September 30, 2017
Fragile X syndromeRandi J Hagerman, Elizabeth Berry-Kravis, Heather Cody Hazlett, et al.Human Molecular Genetics|April 30, 2004
Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexesDominique Helmlinger, Sara Hardy, Souphatta Sasorith, et al.Proceedings of the National Academy of Sciences of the United States of America|October 23, 2009
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphataseLama Al-Qusairi, Norbert Weiss, Anne Toussaint, et al.Journal of Neural Transmission (Vienna, Austria : 1996)|November 27, 2022
GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disordersPauline Burger, Florent Colin, Axelle Strehle, et al.Human Molecular Genetics|October 15, 2005
Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damageIsidre Ferrer, Josef P Kapfhammer, Colette Hindelang, et al.JAMA Neurology|June 19, 2018
Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement DisordersSolveig Montaut, Christine Tranchant, Nathalie Drouot, et al.American Journal of Medical Genetics. Part A|June 23, 2023
Clinical and radiological assessment of scoliosis in Koolen-de Vries syndromeArianne Bouman, Romy N Bouwmeester, Leo A van Vlimmeren, et al.Pageof 21