Marion Beltramone's scientific contributions
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Publications (7)
Diagonistic dyspraxia (DD) is by far the most spectacular manifestation reported by sufferers of acute corpus callosum (CC) injury (so-called “split-brain”). In this form of alien hand syndrome, one hand acts at cross purposes with the other “against the patient’s will”. Although recent models view DD as a disorder of motor control, there is still...
Citations
... 8,9 Defects in the AC, hippocampal commissures, and corpus callosum can result in DD phenotypes in humans, including the dyspraxia seen in this report in a patient with KS due to an ARH-GAP35 PTV. 7,43,44 In addition, a mouse model with the variant ARHGAP35 p.L1396Q showed hypoplastic and/or glomerulocystic kidneys, 23 which has not been observed in our IHH cohort or other animal models. 7 Further examination of reproductive, renal, and neuronal phenotypes across animal models, humans, and ARHGAP35 variant type are needed to dissect the observed pleiotropy. ...