Results 71 to 80 of about 6,098 (248)

Rare presentation of a common disease: Idiopathic hypoparathyroidism presenting with extrapyramidal symptoms and status epilepticus

Indian Journal of Endocrinology and Metabolism, 2012
We report of an 18-year-old male who presented with an epileptiform disorder, features of hypocalcemia, and an extrapyramidal symptom in the form of choreoathetosis.
Kaushik Ghosh, Nilanjan Sengupta, Tanmoy Jyoti Sau, Atri Chatterjee   +3 more
doaj   +1 more source

Identification and Functional Characterization of a Novel Mutation in theNKX2-1Gene: Comparison with the Data in the Literature [PDF]

, 2013
Background: NKX2-1 mutations have been described in several patients with primary congenital hypothyroidism, respiratory distress, and benign hereditary chorea, which are classical manifestations of the brain-thyroid-lung syndrome (BTLS).
BEGUINOT, FRANCESCO, Claudia Suemi Kamoi Kay, FENZI, GIANFRANCO, FERRARA, ALFONSO MASSIMILIANO, Isac Bruck, Lineu Cesar Werneck, Lucia Helena Coutinho dos Santos, MACCHIA, PAOLO EMIDIO, MIRRA, PAOLA, NETTORE, IMMACOLATA CRISTINA, Paulo Jos? Lorenzoni, Rosana Herminia Scola, SALVATORE, DOMENICO, SIBILIO, ANNARITA, UNGARO, PAOLA, Valentina Pagliara   +15 more
core   +1 more source

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum [PDF]

, 2003
Two brothers are reported with early onset progressive cerebellar ataxia, dystonia, spasticity, and intellectual decline. • Neuroradiology showed cerebellar atrophy and features compatible with iron deposition in the putamen (including the “eye of ...
Dheyyat, M., Din, A., Hampshire, D., Jamil, A., Kurdi, A., Mubaidin, A., Mubaidin, M., Roberts, E., Shurbaji, A., Woods, C.G.   +9 more
core   +2 more sources

Characteristics of infantile convulsions and choreoathetosis syndrome caused by PRRT2 mutation

Pediatric Investigation, 2022
Importance Infantile convulsions and choreoathetosis (ICCA) is a rare neurological disorder. Many affected patients are either misdiagnosed or prescribed multiple antiepileptic drugs.
Yaxian Deng, Juanyu Xu, Chunmei Yao, Lei Wang, Xiaohuan Dong, Chengsong Zhao   +5 more
doaj   +1 more source

Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia. [PDF]

, 2012
Paroxysmal nonkinesigenic dyskinesia (PNKD) is an autosomal dominant episodic movement disorder. Patients have episodes that last 1 to 4 hours and are precipitated by alcohol, coffee, and stress.
Edwards, Robert H, Fan, Xueliang, Fu, Ying-Hui, Hess, Ellen J, Karouani, Maha, Lee, Hsien-yang, Nakayama, Junko, Pothos, Emmanuel N, Ptácek, Louis J, Shen, Yiguo, Xu, Ying   +10 more
core   +2 more sources

Reduced Dopamine Transporter Uptake in Dentatorubral‐Pallidoluysian Atrophy

Movement Disorders Clinical Practice, EarlyView.
Kei Okuba, Shugo Fujita, Hitoshi Kawasaki, Genko Oyama   +3 more
wiley   +1 more source

P4‐ATPases as Phospholipid Flippases: From Membrane Dynamics to Human Disorders

Medicine Bulletin, Volume 1, Issue 2, Page 121-135, December 2025.
ABSTRACT P4‐ATPases (P4 subfamily of P‐type ATPases) flippase complex includes an α‐subunit responsible for catalysis and a supporting β‐subunit, which consumes energy by catalyzing the hydrolysis of ATP, thereby facilitating the translocation of aminophospholipids from the outer to the inner leaflet of cellular membranes to maintain the asymmetric ...
Guangyi Chen, Yeming Yang, Xianjun Zhu
wiley   +1 more source

Shedding light on the phenotypic–genotypic correlation of rare treatable and potentially treatable pediatric movement disorders

Egyptian Journal of Medical Human Genetics, 2022
Background Advances in genetic science have led to the identification of many rare treatable pediatric movements disorders (MDs). We explored the phenotypic–genotypic spectrum of pediatric patients presenting with MDs.
Dina Amin Saleh, Azza Abd El Moneim Attia   +1 more
doaj   +1 more source

Exercise interventions for adults and children with cerebral palsy (Protocol) [PDF]

, 2015
This is the protocol for a review and there is no abstract. The objectives are as follows: - The primary aim of this systematic review is to evaluate the effect of exercise interventions on activity, participation, and health-related quality of life ...
Cassidy, EE, Noorduyn, SG, O'Connell, NE, Ryan, JM   +3 more
core   +1 more source

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism

Annals of Neurology, Volume 98, Issue 5, Page 932-950, November 2025.
Objective Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early‐onset neurodevelopmental
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Ay Lin Kho, Neil J Ingham, Karen P Steel, Preethi Sheshadri, Franciska Baur, Lea Hentrich, Birgit Gerisch, Mina Zamani, Cesar Alves, Ata Siddiqui, Haidar S Dafsari, Mehri Salari, Anthony E. Lang, Michael Harris, Alice Abdelaleem, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Gholamreza Shariati, Alireza Sedaghat, Jawaher Zeighami, Daniel Calame, Dana Marafi, Ruizhi Duan, Adrian Boehnke, Gary D. Clark, Jill A. Rosenfeld, Carrie A. Mohila, Dora Steel, Saurabh Chopra, Suvasini Sharma, Nicolai Kohlschmidt, Steffi Patzer, Afshin Saffari, Darius Ebrahimi‐Fakhari, Büşra Eser Çavdartepe, Irene J Chang, Erika Beckman, Renate Peters, Andrew Paul Fennell, Bernice Lo, Luisa Averdunk, Felix Distelmaier, Martina Baethmann, Frances Elmslie, Kairit Joost, Sheela Nampoothiri, Dhanya Yesodharan, Hanna Mandel, Amy Kimball, Antonie D. Kline, Cyril Mignot, Boris Keren, Vincent Laugel, Katrin Õunap, Kalpana Devadathan, Frederique M.C. van Berkestijn, Arpana Silwal, Saskia Koene, Sumit Verma, Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz, Gehad ElGhazali, Lauren Mattas, Mohammad Miryounesi, Farzad Hashemi‐Gorji, Shahryar Alavi, Nayereh Nouri, Mehrdad Noruzinia, Saeideh Kavousi, Arveen Kamath, Sandeep Jayawant, Russell Saneto, Nourelhoda A. Haridy, Pinar Ozkan Kart, Ali Cansu, Madeleine Joubert, Claire Beneteau, Kyra E. Stuurman, Martina Wilke, Tahsin Stefan Barakat, Homa Tajsharghi, Annarita Scardamaglia, Sadeq Vallian, Semra Hız, Ali Shoeibi, Reza Boostani, Narges Hashemi, Meisam Babaei, Norah Saleh Alsaleh, Julie Porter, Tania Attié‐Bitach, Pauline Marzin, Dorota Wicher, Jessica I. Gold, Elisabeth Schuler, Amna Kashgari, Rakan F. Alanazi, Wafaa Eyaid, Marc Engelen, Mirjam Langeveld, Burkhard Stüve, Yun Li, Gökhan Yigit, Bernd Wollnik, Mariana H.G Monje, Dimitri Krainc, Niccolò E. Mencacci, Somayeh Bakhtiari, Michael Kruer, Emanuela Argilli, Elliott Sherr, Yalda Jamshidi, Ehsan Ghayoor Karimiani, Yiu Wing Sunny Cheung, Ivan Karin, Giovanni Zifarelli, Peter Bauer, Wendy K Chung, James R. Lupski, Manju A. Kurian, Jörg Dötsch, Jürgen‐Christoph von Kleist‐Retzow, Thomas Klopstock, Matias Wagner, Calvin Yip, Andreas Roos, Rita Carsetti, Carlo Dionisi‐Vici, Mathias Gautel, Michael R Duchen, Adam Antebi, Henry Houlden, Manolis Fanto, Heinz Jungbluth   +140 more
wiley   +1 more source