Results 101 to 110 of about 19,593 (221)

Generation of Spinocerebellar Ataxia Type 2 induced pluripotent stem cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal CAG repeats in the coding region of the ATXN2 gene

Stem Cell Research, 2019
Spinocerebellar Ataxia Type 2 (SCA2) is an autosomal dominant disease characterized by progressive degeneration of the cerebellum, brain stem, and spinal cord.
Jean Ann Maguire, Alyssa L. Gagne, Pedro Gonzalez-Alegre, Beverly L. Davidson, Vikram Shakkottai, Paul Gadue, Deborah L. French   +6 more
doaj   +1 more source

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy [PDF]

, 2016
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations.
Conn, Kelly, Fitzgerald, Bryan, Hilbert, James E., Luebbe, Elizabeth A., Moxley, Richard T., III, Parkhill, Amy L., Smith, Joanne, Walker, Andrew   +7 more
core   +2 more sources

Nerve Ultrasound in Patients With Friedreich Ataxia

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Nerve enlargement has been reported in patients with Friedreich ataxia (FRDA). The underlying cause remains unclear, and both inflammatory processes and dysmyelination have been suggested as potential mechanisms. This study was aimed at assessing nerve morphology with high‐resolution ultrasound, to identify and describe ...
Katharina Kneer, Jan‐Hendrik Stahl, Natalie Winter, Julia Wittlinger, Stephanie Männlin, Toghrul Gasimli, Ludger Schöls, Zofia Fleszar, Stefanie Hayer, Alexander Grimm   +9 more
wiley   +1 more source

Should we perform systematic electrophysiological study in Steinert's disease?

Journal of Cardiothoracic Surgery, 2008
Myotonic dystrophy type 1 (Steinert's disease) is a multisystem disorder with autosomal dominant inheritance. This disease is associated with the presence of an abnormal expansion of a cytosine thymine-guanine (CTG) trinucleotide repeat on chromosome ...
Fayssoil Abdallah
doaj   +1 more source

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues [PDF]

, 2007
Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, leading to reduced expression of frataxin protein.
C. Sandi, D. Trabzuni, D. Varshney, M. Pook, O. Ismail, R. M. Pinto, S. Al-Mahdawi, S. Lymperi   +7 more
core   +1 more source

RTEL1 Inhibits Trinucleotide Repeat Expansions and Fragility

Cell Reports, 2014
Human RTEL1 is an essential, multifunctional helicase that maintains telomeres, regulates homologous recombination, and helps prevent bone marrow failure.
Aisling Frizzell, Jennifer H.G. Nguyen, Mark I.R. Petalcorin, Katherine D. Turner, Simon J. Boulton, Catherine H. Freudenreich, Robert S. Lahue   +6 more
doaj   +1 more source

Epilepsy in dentatorubral–pallidoluysian atrophy: A systematic review and meta‐analysis

Epilepsia, EarlyView.
Summary of key clinical and electrophysiological characteristics of DRPLA‐related epilepsy from a systematic review and meta‐analysis of 1,191 patients. DRPLA patients with epilepsy showed earlier disease onset, longer CAG repeat expansion, and a tendency toward paternal inheritance. EEG findings frequently included photoparoxysmal responses.
Toru Horinouchi, Haruka Ishibashi, Yukako Nakagami, Yoko Kobayashi Takahashi, Takato Akiba, Masaharu Miyauchi, Naohiro Yamamoto, Ryoichi Inoue, Satoshi Kodama, Takafumi Kubota, Naoto Kuroda   +10 more
wiley   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

THE STUDY OF GENETIC MARKERS ASSOCIATED WITH PRIMARY ENDOTHELIAL CORNEAL DYSTROPHY (FUCHS)

Офтальмохирургия, 2017
Purpose. To assess the frequency of the marker alleles at single polymorphisms rs613872, rs17595731 and CTG18.1 trinucleotide repeat expansion in Russian patients with Fuchs’ endothelial corneal dystrophy (FECD).Material and methods.
B. E. Malyugin, O. P. Antonova, L. O. Skorodumova, E. I. Sharova, O. V. Selezneva, S. A. Danilenko, E. S. Kostryukova   +6 more
doaj  

The Structure and Function of Frataxin [PDF]

, 2006
Frataxin, a highly conserved protein found in prokaryotes and eukaryotes, is required for efficient regulation of cellular iron homeostasis. Humans with a frataxin deficiency have the cardio- and neurodegenerative disorder Friedreich’s ataxia, commonly ...
Bencze, Krisztina Z., Cook, Jeremy D., Kondapalli, Kalyan C., McMahon, Stephen, Millán-Pacheco, César, Pastor, Nina, Stemmler, Timothy L.   +6 more
core   +2 more sources