Results 41 to 50 of about 12,825 (214)

Aproximación a la ingesta nutricional en pacientes con Ataxia Espinocerebelosa tipo 2

Revista Habanera de Ciencias Médicas, 2021
Introducción: La Ataxia Espinocerebelosa tipo 2 (SCA2) es una enfermedad neurodegenerativa y hereditaria. No se ha realizado ningún estudio para la caracterización de la ingesta nutricional en pacientes cubanos con SCA2.
Yasnay Jorge Saínz, Dennis Almaguer Gotay, Annelié Rodríguez Estupiñán, Luis Enrique Almaguer Mederos   +3 more
doaj  

Involvement of the Peripheral Nervous System in Episodic Ataxias

Biomedicines, 2020
Episodic ataxias comprise a group of inherited disorders, which have a common hallmark—transient attacks of ataxia. The genetic background is heterogeneous and the causative genes are not always identified.
Wojciech Koźmiński, Joanna Pera
doaj   +1 more source

Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center

Annals of Clinical and Translational Neurology, 2021
Background Single‐center clinical series provide important information on genetic distribution that can guide genetic testing. However, there are few such studies on pediatric populations with inherited peripheral neuropathies (IPNs).
Herminia Argente‐Escrig, Marina Frasquet, Juan Francisco Vázquez‐Costa, Elvira Millet‐Sancho, Inmaculada Pitarch, Miguel Tomás‐Vila, Carmen Espinós, Vincenzo Lupo, Teresa Sevilla   +8 more
doaj   +1 more source

Therapy of episodic ataxias: case report and review of the literature

, 2019
Episodic ataxias (EAs) are characterized by recurrent, discrete episodes of vertigo and ataxia. EA1 and EA2 are the two most common forms. In the interictal interval, myokymia is typically present in EA1, whereas EA2 patients present with interictal ...
Marco Vista, Monica Mazzoni, Laura Maria Raglione, Daniele Orsucci   +3 more
core   +1 more source

ATZ‐1 promotes DNA replication efficiency to maintain normal meiotic function

FEBS Open Bio, EarlyView.
Absence of ATZ‐1 interferes with meiotic DNA replication and cell cycle function via CHK‐1. This causes downstream defects associated with DNA damage and genomic integrity. Taken together, this study suggests that ATZ‐1 influences DNA replication efficiency and cell cycle function to maintain normal meiotic function.
Taylin E. Gourley, Luke W. Molesworth, Nethma H. Waduge, Fahimeh Eskandari, Peter R. Boag, Gregory M. Davis   +5 more
wiley   +1 more source

Spatial perspective taking is impaired in spinocerebellar ataxias and Friedreich ataxia

Scientific Reports
Spinocerebellar ataxias (SCA) are rare neurodegenerative diseases affecting the cerebellum and its connections, leading to progressive motor disability and cognitive impairment as part of the cerebellar cognitive affective syndrome.
Simona Karamazovova, Martina Laczó, Veronika Matuskova, Natalie Svecova, Lucie Stovickova, Zuzana Blichova, Jaroslava Paulasova Schwabova, Michaela Kuzmiak, Jan Laczó, Martin Vyhnalek   +9 more
doaj   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

Ataxias cerebelosas hereditarias: principales avances neurofisiológicos, clínicos y genéticos

Correo Científico Médico, 2019
El término ataxias cerebelosas hereditarias comprende un amplio espectro de trastornos neurológicos en los cuales la ataxia es el síntoma principal. Conforman un complejo grupo de entidades cuyo reconocimiento es esencial para el correcto asesoramiento ...
Jorge Michel Rodríguez Pupo, Enriqueta Núñez Arias, Yesenia Rojas Rodríguez, Yolaine Aguilera Sánchez, Myrurgia Amieiro Paz   +4 more
doaj   +2 more sources

SnapShot: Biology of Genetic Ataxias

, 2018
Genetic ataxias are a clinically important group of disabling, mostly neurodegenerative, diseases of the cerebellum. This SnapShot shows that the vast majority of established monogenic causes of dominant and recessive ataxias can be captured by a limited
Warrenburg, B.P.C. van de, Eidhof, I.J.M., Schenck, A.   +2 more
core   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source