Results 41 to 50 of about 104,697 (299)

Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature

Frontiers in Neurology, 2022
A wide spectrum of neurodegenerative diseases has been associated with pathogenic variants in the PNPLA6 (patatin-like phospholipase domain-containing protein 6) gene, including spastic paraplegia type 39, Gordon—Holmes, Boucher—Neuhauser, Oliver—Mc ...
Lorenzo Nanetti, Daniela Di Bella, Stefania Magri, Mario Fichera, Elisa Sarto, Anna Castaldo, Alessia Mongelli, Silvia Baratta, Silvia Fenu, Marco Moscatelli, Maria Teresa Bonati, Andrea Martinuzzi, Caterina Mariotti, Franco Taroni   +13 more
doaj   +1 more source

Maturation of Human Pluripotent Stem Cell-Derived Cerebellar Neurons in the Absence of Co-culture

Frontiers in Bioengineering and Biotechnology, 2020
The cerebellum plays a critical role in all vertebrates, and many neurological disorders are associated with cerebellum dysfunction. A major limitation in cerebellar research has been the lack of adequate disease models.
Teresa P. Silva, Teresa P. Silva, Evguenia P. Bekman, Evguenia P. Bekman, Evguenia P. Bekman, Tiago G. Fernandes, Sandra H. Vaz, Sandra H. Vaz, Carlos A. V. Rodrigues, Maria Margarida Diogo, Joaquim M. S. Cabral, Maria Carmo-Fonseca   +11 more
doaj   +1 more source

Transcranial Sonography Characteristics of Cerebellar Neurodegenerative Ataxias [PDF]

Cerebellar neurodegenerative ataxias are a group of disorders affecting the cerebellum and its pathways with different neurological structures. Transcranial sonography (TCS) has been used for the evaluation of brain parenchymal structures in various ...
Gorica Marić, Milutin Kostić, Nataša Dragašević-Mišković, Olivera Tamaš, Andona Milovanović, Milija Mijajlović, Tamara Švabić, Marta Jeremić   +7 more
core   +1 more source

Outcome of severe unilateral cerebellar hypoplasia [PDF]

, 2009
AIM: Complete or subtotal absence of one cerebellar hemisphere is exceptional; only single cases have been described. We aimed to assess the long-term outcome in children with severe unilateral cerebellar hypoplasia (UCH).
Weissert, M, Roulet-Perez, E., Limperopoulos, C., Muller, A., Poretti, Andrea, Roulet-Perez, Eliane, Boltshauser, E, Weissert, Markus, Prayer, D, Kotzaeridou, Urania, Wolf Nicole, I., Limperopoulos, C, Rauscher, C., Du Plessis Adre, J., Du Plessis, A.J., Prayer, Daniela, Weissert, M., Wolf, N.I., Boltshauser, E., Poretti, A, Du Plessis, A J, Poretti, A., Roulet-Perez, E, Wolf, N I, Prayer, D., Limperopoulos, Catherine, Rauscher, Christian, Huisman, T.A.G.M., Mueller, Anita, Boltshauser, Eugen, Rauscher, C, Kotzaeridou, U, Huisman Thierry, A.G.M., Müller, A, Huisman, T A G M, Kotzaeridou, U.   +35 more
core   +1 more source

Quantification of volumetric morphometry and optical property in the cortex of human cerebellum at micrometer resolution

NeuroImage, 2021
The surface of the human cerebellar cortex is much more tightly folded than the cerebral cortex. Volumetric analysis of cerebellar morphometry in magnetic resonance imaging studies suffers from insufficient resolution, and therefore has had limited ...
Chao J. Liu, William Ammon, Viviana Siless, Morgan Fogarty, Ruopeng Wang, Alessia Atzeni, Iman Aganj, Juan Eugenio Iglesias, Lilla Zöllei, Bruce Fischl, Jeremy D. Schmahmann, Hui Wang   +11 more
doaj   +1 more source

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Loss of ABCA8B decreases myelination by reducing oligodendrocyte precursor cells in mice

Journal of Lipid Research, 2022
The myelin sheath, which is wrapped around axons, is a lipid-enriched structure produced by mature oligodendrocytes. Disruption of the myelin sheath is observed in several neurological diseases, such as multiple sclerosis.
Yiran Liu, David Castano, Francesco Girolamo, Laia Trigueros-Motos, Han-Gyu Bae, Suat Peng Neo, Jeongah Oh, Pradeep Narayanaswamy, Federico Torta, Kerry Anne Rye, Dong-Gyu Jo, Jayantha Gunaratne, Sangyong Jung, Daniela Virgintino, Roshni R. Singaraja   +14 more
doaj   +1 more source

An exploration of the lived experience of progressive cerebellar Ataxia: An interpretative phenomenological analysis [PDF]

, 2012
This thesis was submitted for the degree of Doctor of Philosophy and was awarded by Brunel UniversityBackground and Purpose: Progressive cerebellar ataxia is a rare neurological condition characterised by uncoordinated movement, and impaired speech ...
Cassidy, Elizabeth Emma
core  

Non-invasive Cerebellar Stimulation in Cerebellar Disorders [PDF]

, 2018
BACKGROUND & OBJECTIVE: Non-invasive brain stimulation (NIBS) might be a valuable therapeutic approach for neurological diseases by modifying the cortical activity in the human brain and promoting neural plasticity.
Fabiana Ruggiero, Priori, Alberto, Roberta Ferrucci, Ilaria Cova, Ruggiero, Fabiana, Francesca Cortese, Chiara Di Nuzzo, Di Nuzzo, Chiara, Cova, Ilaria, Ferrucci, Roberta, Alberto Priori, Cortese, Francesca   +11 more
core   +1 more source