Concepedia

Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations

Masahide Goto, Yoshiaki Saito, Ryoko Honda, Takashi Saito, Kenji Sugai, Yuko Matsuda, Chiharu Miyatake, Eri Takeshita, Akihiko Ishiyama, Hirofumi Komaki,

Brain and Development · 2014 · 12 citations · 12 references

DOI

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12

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

Amy C. Lossie · Journal of Medical Genetics · 2001 · 364 citations · Full text

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Cortical myoclonus in angelman syndrome

Renzo Guerrini, Paolo Bonanni, Timothy M. de Lorey et al. · Annals of Neurology · 1996 · 141 citations

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Epilepsy in Patients With Angelman Syndrome Caused by Deletion of the Chromosome 15q11-13

Kette D. Valente, Célia Priszkulnik Koiffmann, Cíntia Fridman et al. · Archives of Neurology · 2006 · 109 citations

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Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients

Anne Moncla, Perrine Malzac, Marie‐Antoinette Voelckel et al. · European Journal of Human Genetics · 1999 · 106 citations · Full text

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Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling

Anne Moncla, Perrine Malzac, Marie-Odile Livet et al. · Journal of Medical Genetics · 1999 · 101 citations · Full text

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