Results 51 to 60 of about 15,463 (269)

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

An update on Spino-cerebellar ataxias

Annals of Indian Academy of Neurology, 2013
The dominantly inherited ataxias, also known as Spino-cerebellar ataxias (SCAs), are rapidly expanding entities. New mutations are being identified at remarkable regularity.
Banashree Mondal, Pritikanta Paul, Madhuparna Paul, Hrishikesh Kumar   +3 more
doaj   +1 more source

The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician [PDF]

, 2013
A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline ...
Bhatia, KP, Martino, D, Stamelou, M
core  

DNA repair in the trinucleotide repeat disorders [PDF]

, 2017
Background Inherited diseases caused by unstable repeated DNA sequences are rare, but together represent a substantial cause of morbidity. Trinucleotide repeat disorders are severe, usually life-shortening, neurological disorders caused by nucleotide ...
Houlden, Henry, Jones, Lesley, Tabrizi, Sarah J.   +2 more
core   +2 more sources

Noninvasive Focal Gene Delivery into the Cerebellum of Non‐Human Primates using Focused Ultrasound

Advanced Science, EarlyView.
Focal and non‐invasive viral vector delivery in non‐human primates remains a major challenge in translational neuroscience. Low‐intensity focused ultrasound was used to transiently open the blood–brain barrier and enable targeted gene delivery to the cerebellum.
Noelia Esteban‐García, José A. Pineda‐Pardo, Inés Trigo‐Damas, Marta Gutiérrez, Marta Castillo‐Ortiz, Megan Carrillo, Alejandro Reinares‐Sebastian, Víctor Medina‐Chavarrías, Itay Rachmilevitch, Masahiko Takada, José A. Obeso, Javier Blesa   +11 more
wiley   +1 more source

Spinocerebellar ataxia type 40: A case report and literature review

Translational Neuroscience, 2021
Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases with ataxia as the main clinical manifestation. The phenotypes, gene mutations, and involved sites of different subtypes show a high degree of heterogeneity.
Han Fengyue, Su Dan, Qu Chuanqiang
doaj   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

Neuroradiological Findings in the Spinocerebellar Ataxias

Tremor and Other Hyperkinetic Movements, 2019
Background: The spinocerebellar ataxias (SCAs) are a group of autosomal dominant degenerative diseases characterized by cerebellar ataxia.
Alex Tiburtino Meira, Walter Oleschko Arruda, Sergio Eiji Ono, Arnolfo de Carvalho Neto, Salmo Raskin, Carlos Henrique F. Camargo, Hélio Afonso G. Teive   +6 more
doaj   +1 more source

Recurrent Acute Liver Failure in a Bahraini Child With a Novel Mutation of Spinocerebellar Ataxia-21 [PDF]

, 2023
Hasan M Isa, Jawaher F Alkaabi, Wasan H Alhammadi, Khadija Ahmed Marjan   +3 more
openalex   +1 more source

Cellular and circuit mechanisms underlying spinocerebellar ataxias [PDF]

, 2016
Degenerative ataxias are a common form of neurodegenerative disease that affect about 20 individuals per 100,000. The autosomal dominant spinocerebellar ataxias (SCAs) are caused by a variety of protein coding mutations (single nucleotide changes ...
Meera, P, Otis, TS, Pulst, SM
core   +1 more source