Results 101 to 110 of about 3,402 (231)

Intake of High‐Calorie Diet and Phytonutrients: A New Paradigm to Treat Cerebral Palsy in Children

eFood, Volume 6, Issue 1, February 2025.
This paper highlights the interdisciplinary nature of CP management, emphasizing the importance of collaboration among neurologists, rehabilitation specialists, and other healthcare professionals to address the wide range of co‐morbidities associated with the condition.
Tabussam Tufail, Huma Bader Ul Ain, Mahwish, Sana Noreen, Aiman Ijaz, Ali Ikram, Muhammad Tayyab Arshad, Muhammed Adem Abdullahi   +7 more
wiley   +1 more source

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion [PDF]

, 2012
Cataloged from PDF version of article.Cerebellar ataxia, mental retardation and dysequilibrium syndrome is a rare and heterogeneous condition. We investigated a consanguineous family from Turkey with four affected individuals exhibiting the condition ...
Basak, A. N., Bilguvar, K., Gulsuner, S., Gunel, M., Onat, O. E., Ozcelik, T., Tan, M., Tan, U., Topaloglu, H.   +8 more
core   +1 more source

Exome sequencing in Nigerian children with early‐onset epilepsy syndromes

Epilepsia Open, Volume 10, Issue 1, Page 222-232, February 2025.
Abstract Objective Nigeria, along with other Sub‐Saharan African countries, bears the highest burden of epilepsy worldwide. This high prevalence is attributed to a combination of factors, including a significant incidence of infectious diseases, perinatal complications, and genetic etiologies.
Ibitayo Abigail Ademuwagun, Yagoub Adam, Solomon Oladapo Rotimi, Steffen Syrbe, Maximilian Radtke, Julia Hentschel, Johannes R. Lemke, Ezekiel Adebiyi   +7 more
wiley   +1 more source

TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia

Case Reports in Neurology, 2017
Background: Tubulin mutations are a cause of neuronal migrational disorders referred to as tubulinopathies. Mutations in tubulin genes can have a severe impact on microtubule function and result in heterogeneous clinical presentations.
Joshua T. Geiger, Alice B. Schindler, Cornelis Blauwendraat, Harvey S. Singer, Sonja W. Scholz   +4 more
doaj   +1 more source

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies [PDF]

, 2015
Author contacted for ...
De Smedt, M, Kayserili, H, Kayserili, H, Mundlos, S, Müller, D, Ruddy, DM, Skalej, M, Snape, KM, Southgate, L, Southgate, L, Sukalo, M, Tilsen, F, Trembath, R, Trembath, R, Tüysüz, B, van der Aa, N, Wakeling, E, Wuyts, W, Wuyts, W, Zenker, M, Ørstavik, KH   +20 more
core   +2 more sources

Cortical Gyrification and Cognitive Decline in the Human Brain With Type 2 Diabetes Mellitus

Brain and Behavior, Volume 15, Issue 1, January 2025.
The relationship between fasting blood glucose and working memory in patients with type 2 diabetes is partially mediated by cortical gyrification of the right temporal pole. This study suggests that strengthening blood glucose level management through lifestyle intervention may be an effective method to alleviate cognitive decline in elderly patients ...
Weiye Lu, Yuna Chen, Zidong Cao, Zhizhong Sun, Wenbin Qiu, Limin Ge, Xin Tan, Yi Liang, Shijun Qiu   +8 more
wiley   +1 more source

1 Mb Deletion in 10q26.3 and the Likely Pathogenic Variant in the TRIO Gene: A Twin Case Study Challenging Their Role in Autism Diagnosis

Case Reports in Pediatrics, Volume 2025, Issue 1, 2025.
Here, we present a case study of twin boys aged 2 and 7 years who both met the diagnostic criteria for autism spectrum disorders (ASDs) based on the standard diagnostic instruments ADOS‐2 and ADI‐R. The clinical indication for genetic diagnostics in the first boy was autism with high severity of symptoms, delayed speech development, and mild facial ...
Silvia Lakatošová, Michaela Miklošovičová, Michal Konečný, Lenka Wachsmannová, Gabriela Krasňanská, Mária Kopčíková, Petra Keményová, Miroslav Tomka, Jana Lisyová, Daniela Ostatníková, Gabriela Repiská, Andrea Scaramuzza   +11 more
wiley   +1 more source

Neuroplasticity in an Adolescent with Corpus Callosum Agenesis Associated with Epilepsy

Revista Finlay, 2021
Neural plasticity represents the brain's ability to recover and restructure itself, allowing it to recover from disorders or injuries and reduce the effects of structural alterations, whether congenital or acquired. The agenesis of the corpus callosum is
Dámaris González Vidal, Osvaldo Ramón Aguilera Pacheco, Margarita Isabel Chávez Isla   +2 more
doaj  

Clinical features of 21 patients with lissencephaly type I (agyria-pachygyria)

The Turkish Journal of Pediatrics, 2000
Lissencephaly (agyria-pachygyria) is the most severe neuronal migration disorder, characterized by total or partial absence of gyri. In this study, 21 patients with lissencephaly type I (9 girls, 12 boys) with a mean age of 19 +/- 21 months (2 ...
M Ozmen, Y Yilmaz, M Calişkan, O Minareci, N Aydinli   +4 more
doaj  

Distinct Features of Doublecortin as a Marker of Neuronal Migration and Its Implications in Cancer Cell Mobility

Frontiers in Molecular Neuroscience, 2017
Neuronal migration is a critical process in the development of the nervous system. Defects in the migration of the neurons are associated with diseases like lissencephaly, subcortical band heterotopia (SBH), and pachygyria.
Abiola A. Ayanlaja, Ye Xiong, Yue Gao, GuangQuan Ji, Chuanxi Tang, Zamzam Abdikani Abdullah, DianShuai Gao   +6 more
doaj   +1 more source