Results 141 to 150 of about 6,098 (248)

Familial Infantile Convulsions and Paroxysmal Choreoathetosis: A New Neurological Syndrome Linked to the Pericentromeric Region of Human Chromosome 16

, 1997
Pierre Szepetowski, Jacques Rochette, Patrick Berquin, Charles Piussan, G.M. Lathrop, Anthony P. Monaco   +5 more
openalex   +1 more source

Choreoathetosis in porto-systemic encephalopathy. [PDF]

, 1967
P J Toghill, A W Johnston, J.F. Smith
openalex   +1 more source

Home-based measurements of dystonia and choreoathetosis in cerebral palsy using smartphone-coupled inertial sensor technology and machine learning: A proof-of-concept study - dataset

, 2022
Dylan den Hartog, Marjolein M. van der Krogt, Sven van der Burg, Ignazio Aleo, Johannes Gijsbers, Laura Bonovrié, Jaap Harlaar, Annemieke I. Buizer, Helga Haberfehlner   +8 more
openalex   +1 more source

Childhood choreoathetosis secondary to hyper-IgM syndrome (CD40 ligand deficiency) [PDF]

, 2020
Ian Coulter, Han Yan, Carolina Gorodetsky, Melika Akhbari, Sara Breitbart, Suneil K. Kalia, Alfonso Fasano, George M. Ibrahim   +7 more
openalex   +1 more source

Sub-clinical hypothyroidism and reversible choreoathetosis

, 2011
Shahul Hameed, Eng‐King Tan
openalex   +2 more sources

Paroxysmal Kinesigenic Dyskinesia With Infantile Convulsions in a Child With Inherited Co-deletion of 16p11.2 and 16p12.2: A Case Report and Literature Review. [PDF]

Cureus
Ding M, Yin B, Liu Y, Yao J, Dong H.
europepmc   +1 more source

A rare but treatable cause of paroxysmal nonkinesigenic choreoathetosis

, 2017
Sahil Mehta, Dheeraj Khurana, Gourav Jain, Vivek Lal   +3 more
openalex   +1 more source

Refining the Phenotypic and Genotypic Spectrum of <i>WDR73</i>-Related Galloway-Mowat Syndrome: A Case Series and Systematic Review. [PDF]

Neurol Genet
Yang YL, Lee HF, Chi CS, Tsai CR, Liu SN, Wu PY.   +5 more
europepmc   +1 more source

Paroxysmal kinesigenic choreoathetosis (PKC): Confirmation of linkage to 16p11-q21 but unsuccessful detection of mutations among 157 genes at the PKC- critical region in seven PKC families

, 2007
妙子 菊池
openalex   +1 more source

Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis [PDF]

, 2011
Jingyun Li, Xilin Zhu, Xin Wang, Wei Sun, Bing Feng, Te Du, Bei Sun, Fenghe Niu, Wei Hua, Xiaopan Wu, Lei Dong, Liping Li, Xingqiu Cai, Yuping Wang, Ying Liu   +14 more
openalex   +1 more source