Results 101 to 110 of about 6,098 (248)

Neonatal hyperbilirubinemia and Rhesus disease of the newborn: incidence and impairment estimates for 2010 at regional and global levels. [PDF]

, 2013
BACKGROUND: Rhesus (Rh) disease and extreme hyperbilirubinemia (EHB) result in neonatal mortality and long-term neurodevelopmental impairment, yet there are no estimates of their burden.
Bell, Jennifer, Bhutani, Vinod K, Blencowe, Hannah, Cousens, Simon, de Almeida, Maria-Fernanda, Du, Lizhong, Ebbesen, Finn, Fahmy, Nahed, Khanna, Rajesh, Kumar, Praveen, Lawn, Joy E, Mori, Rintaro, Okolo, Angela A, Olusanya, Bolajoko O, Paul, Vinod K, Sgro, Michael, Slusher, Tina M, Zipursky, Alvin   +17 more
core   +2 more sources

Novel Biallelic SQSTM1 Mutation Causing a Subacute‐Onset Complex Movement Disorder with Oculomotor Abnormalities

Movement Disorders Clinical Practice, Volume 12, Issue 11, Page 1995-2000, November 2025.
Ana Luísa de Almeida Marcelino, Nina‐Maria Wilpert, Jonas Leubner, Felix Boschann, Nadja Ehmke, Christoph J. Ploner, Tina Mainka, Markus Schuelke, Andrea A. Kühn   +8 more
wiley   +1 more source

Paroxysmal choreoathetosis in a patient with idiopathic basal ganglia calcification, chorea, and dystonia [PDF]

, 1997
Christine Klein, P. Vieregge, D. Kompf
openalex   +1 more source

Recessive ataxia with ocular apraxia: review of 22 Portuguese patients. [PDF]

, 2001
BACKGROUND: The recessive ataxias are a heterogeneous group of neurodegenerative disorders characterized by cerebellar ataxia associated with a number of different neurologic, ophthalmologic, or general signs.
Barbot, C., Barros, J., Chorão, R., Coutinho, P., Dias, K., Ferreira, C., Fineza, I., Guimarães, A., Mendonça, P., Monteiro, J., Moreira, M., Sequeiros, J.   +11 more
core  

Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant

SAGE Open Medical Case Reports, 2018
Pathogenic variants in EEF1A2 , a gene encoding a eukaryotic translation elongation factor, have been previously reported in pediatric cases of epileptic encephalopathy and intellectual disability.
Eboni I Lance, Martin Kronenbuerger, Julie S Cohen, Orion Furmanski, Harvey S Singer, Ali Fatemi   +5 more
doaj   +1 more source

A Case Report of Chorea Associated with Hyperthyroidism [PDF]

Journal of Clinical and Diagnostic Research, 2016
Blerim Arifi, Sorab Gupta, Shorabh Sharma, Aswani Daraboina, Shradha Ahuja   +4 more
doaj   +1 more source

The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal Behavior [PDF]

, 2007
C Lenski, R. Frank Kooy, Edwin Reyniers, Daniela Loessner, Ronald J. A. Wanders, Birgitta Winnepenninckx, Heide Hellebrand, Stefanie Engert, Charles E. Schwartz, Alfons Meindl, Juliane Ramser   +10 more
openalex   +1 more source

Mutational analysis of the anion exchanger 3 gene in familial paroxysmal dystonic choreoathetosis linked to chromosome 2q [PDF]

, 1999
Hirotaka Matsuo, Keiko Kamakura, Sachio Matsushita, T. Ohmori, Masamichi Okano, Y. Tadano, Shoji Tsuji, Susumu Higuchi   +7 more
openalex   +1 more source

Lesch-Nyhan Syndrome with Self-harming and Choreoathetosis after Improvement of Hyperuricemia: a case report

, 2022
哲朗 石田, Tomonori Murayama
openalex   +2 more sources

Valproate‐Induced Generalized Choreoathetosis [PDF]

Movement Disorders Clinical Practice, 2014
Giordano A, Amboni M, Tessitore A
openaire   +2 more sources