Results 51 to 60 of about 42,506 (235)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics [PDF]

, 2013
Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classically characterized by pure cerebellar ataxia and occasionally by non-cerebellar signs such as pyramidal signs, ophthalmoplegia, and tremor. The onset of
Fujioka Shinsuke, Sundal Christina, Wszolek Zbigniew K   +2 more
core   +1 more source

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

Cerebellar lncRNA Expression Profile Analysis of SCA3/MJD Mice

International Journal of Genomics, 2018
Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia in China with highly clinical heterogeneity, such as progressive cerebellar ataxia, dysarthria, pyramidal signs, external ...
Zhe Long, Tianjiao Li, Zhao Chen, Yun Peng, Chunrong Wang, Xiaocan Hou, Hongyu Yuan, Puzhi Wang, Yue Xie, Lang He, Xin Zhou, Huirong Peng, Rong Qiu, Kun Xia, Beisha Tang, Hong Jiang   +15 more
doaj   +1 more source

Downbeat nystagmus: aetiology and comorbidity in 117 patients [PDF]

, 2008
Objectives: Downbeat nystagmus (DBN) is the most common form of acquired involuntary ocular oscillation overriding fixation. According to previous studies, the cause of DBN is unsolved in up to 44% of cases.
Brandt, Thomas, Glaser, Mirjam, Strupp, Michael, Wagner, Judith N.   +3 more
core   +1 more source

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

Increased sexual arousal in patients with movement disorders

Arquivos de Neuro-Psiquiatria, 2016
Increased of sexual arousal (ISA) has been described in different neurological diseases. The purpose of this study was present a case series of ISA in patients with movement disorders.
Hélio A. G. Teive, Adriana Moro, Mariana Moscovich, Renato P. Munhoz   +3 more
doaj   +1 more source

Spinocerebellar ataxia-type 34: A case report and brief review of the literature

Radiology Case Reports, 2023
Neurodegenerative disorders are classified as a group of diseases with progressive loss of neurons secondary to aggregation of misfolded proteins.
Vivek Batheja, MD, Morgan Fish, DO, Aneri B. Balar, MD, Siddhi Hedge, MBBS, Jeffery P. Hogg, MD, FACR, Dhairya A. Lakhani, MD, Musharaf Khan, DO   +6 more
doaj   +1 more source

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA) [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying ...
Atalaia, Antonio, DiPaolo, Giovanni, Guglieri, Michela, Jimenez-Moreno, Cecilia, Lochmüller, Hanns, Monckton, Darren G., Nikolenko, Nikoletta   +6 more
core   +2 more sources

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