Results 51 to 60 of about 71,064 (224)

Optimized Cas9‐Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders

Advanced Science, EarlyView.
An optimized Cas9‐enriched nanopore sequencing workflow, combined with STRiker, enables simultaneous analysis of disease‐associated STR loci from patient blood. The nCATS–STRiker workflow detects repeat expansions, de novo repeat motifs, interruption patterns, and methylation in a single assay, improving the genetic diagnosis of previously undiagnosed ...
Seungbok Lee, Chanju Jung, Minjeong Kim, Narae Kim, Gue‐Ho Hwang, Soon‐Tae Lee, Kon Chu, Sang Kun Lee, Han‐Joon Kim, Jong‐Hee Chae, Sangsu Bae, Jangsup Moon   +11 more
wiley   +1 more source

Sensorimotor processing for balance in spinocerebellar ataxia type 6. [PDF]

, 2015
We investigated whether balance impairments caused by cerebellar disease are associated with specific sensorimotor processing deficits that generalize across all sensory modalities.
Voyce, DC, Marsden, JF, Day, BL, Bunn, LM, Giunti, P   +4 more
core  

Motor decline in clinically presymptomatic spinocerebellar ataxia type 2 gene carriers. [PDF]

PLoS ONE, 2009
BACKGROUND: Motor deficits are a critical component of the clinical characteristics of patients with spinocerebellar ataxia type 2. However, there is no current information on the preclinical manifestation of those motor deficits in presymptomatic gene ...
Luis Velázquez-Perez, Rosalinda Díaz, Ruth Pérez-González, Nalia Canales, Roberto Rodríguez-Labrada, Jacquelín Medrano, Gilberto Sánchez, Luis Almaguer-Mederos, Cira Torres, Juan Fernandez-Ruiz   +9 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Molecular genetic characterization of ataxic movement disorders in mouse and human [PDF]

, 2009
Deletion at ITPR1 underlies a young onset autosomal recessive ataxia in mice and a late onset autosomal dominant ataxia (SCA15) in humans. Data presented show the utility of investigating spontaneous mouse mutations in understanding human disease ...
van de Leemput, J.C.H., van de Leemput, J C H   +1 more
core  

Spinocerebellar ataxia type 2-neuronopathy or neuropathy?

, 2019
Use of peripheral nerve ultrasound alongside standard electrodiagnostic tests may help to gain insight into the pathophysiology of peripheral nerve involvement in type 2 spinocerebellar ataxia (SCA2)
Miriam Rodrigues, Fiore Manganelli, Dean Kilfoyle, Roxburgh, Richard, Manganelli, Fiore, Aniello Iovino, Antenora, Antonella, Pelosi, Luciana, Mulroy, Eoin, Alessandro Filla, Rosa Iodice, Iodice, Rosa, Filla, Alessandro, Lucio Santoro, Antonella Antenora, Eoin Mulroy, Kilfoyle, Dean, IOVINO, ANIELLO, Richard Roxburgh, Luciana Pelosi, Rodrigues, Miriam, Santoro, Lucio   +21 more
core   +1 more source

A Small Trinucleotide Expansion in the TBP Gene Gives Rise to a Sporadic Case of SCA17 with Abnormal Putaminal Findings on MRI [PDF]

, 2008
A Japanese woman developed gait disturbances at 25 years of age, and subsequently underwent gradual changes in her personality. By the age of 42, she showed clear signs of dementia and cerebellar ataxia, and displayed behavioral abnormalities, choreic ...
Suzuki, Chieko, Tomiyama, Masahiko, Jackson, Mandy, Ikeda, Yoshio, Yamamoto-Watanabe, Yukiko, Watanabe, Mitsunori, Kawarabayashi, Takeshi, Shoji, Mikio, Wakasaya, Yasuhito, Monai, Natsuki, Kimura, Tamaki, Miki, Yasuo, Matsubara, Etsuro, Seino, Yusuke   +13 more
core   +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

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 21 with Retardation

, 2014
Investigators at Universite de Lille Nord de France, and other centers in France, report the identification of a novel causative gene for spinocerebellar ataxia 21, an autosomal dominant disorder, initially mapped to chromosome 7 and designated as ...
John J Millichap, J Gordon Millichap, Millichap, J. Gordon, Millichap, John J.   +3 more
core   +1 more source