Results 171 to 180 of about 127,576 (299)

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

Sequence Variants in Small CAG Repeat Expansions of the <i>HTT</i> Gene and Disease Onset and Progression in Huntington Disease. [PDF]

Neurology
Heinzmann A, Petit E, Dawson J, Kay C, Davoine CS, Méreaux JL, Black HF, Arning L, Nguyen HP, Coarelli G, Sayah S, Pariente J, Gérard F, Hurmic H, Hayden MR, Durr A.   +15 more
europepmc   +1 more source

Humanistic Burden of Huntington Disease: Evidence From the Huntington Disease Burden of Illness Study. [PDF]

Neurol Clin Pract, 2022
Rodriguez Santana I, Frank S, Doherty M, Willock R, Hamilton J, Hubberstey H, Stanley C, Vetter L, Winkelmann M, Dolmetsch RE, Li N, Ratsch S, Ali TM.   +12 more
europepmc   +1 more source

Proteostasis of organelles in aging and disease

The FEBS Journal, EarlyView.
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi, Cansu Doğan, Dunja Petrović, Gülce Perçin, Seda Koyuncu, David Vilchez   +5 more
wiley   +1 more source

Neuroleptic malignant syndrome in Huntington disease. [PDF]

Eur J Neurol
Funcis A, Ravera B, Zinzi P, Solito M, Petracca M, Calabresi P, Bentivoglio AR.   +6 more
europepmc   +1 more source

Exploring Theory of Mind abilities in patients with probable idiopathic normal pressure hydrocephalus

Journal of Neuropsychology, EarlyView.
Abstract This study investigated Theory of Mind (ToM) deficits in patients with suspected idiopathic normal pressure hydrocephalus (iNPH), a condition affecting motor, cognitive and autonomic functions. Given the overlap between ToM‐related neural networks and those affected in iNPH, we examined whether ToM impairments are a feature of the disease ...
Akrivi Vatsi, George Stranjalis, Stylianos Gkatzonis, Christos Koutsarnakis, Eleftherios Neromyliotis, Aristotelis Kalyvas, Ion N. Beratis, Evangelos Drosos, Spyridon Komaitis, Evangelia Liouta   +9 more
wiley   +1 more source

Molecular and imaging biomarker responses to brain mutant HTT lowering in a mouse model of Huntington disease. [PDF]

Mol Ther Nucleic Acids
Caron NS, Fan J, Ma D, Yung A, Ko S, Bale K, Anderson C, Kozlowski P, Pouladi MA, Wellington CL, Hayden MR.   +10 more
europepmc   +1 more source

Frontal Assessment Battery: Reliability, validity and discriminative ability in a Spanish sample of amnestic mild cognitive impairment and Alzheimer's disease

Journal of Neuropsychology, EarlyView.
Abstract Dementia constitutes one of the most widespread neurological disorders, representing an important health concern due to its increasing prevalence. Among the various types of dementia, Alzheimer's disease (AD) is the most common in the elderly, characterized by episodic memory impairment and also a decline in executive functions. Mild cognitive
Luis Heredia, María Marco, Nerea Carrión, Margarita Torrente   +3 more
wiley   +1 more source

Suicidal Ideation and Sleep Disturbances Among People With Huntington Disease: Evidence From the HDBOI Study. [PDF]

Neurol Clin Pract
Rodríguez Santana I, Frank SA, Mestre TA, Arnesen A, Hamilton JL, Hubberstey H, Winkelmann M, Hernandez-Jimenez E, Frimpter J, Dolmetsch R, Ali TM.   +10 more
europepmc   +1 more source

Animal fluency in people with Parkinson's disease: Item‐based performance before and after deep brain stimulation surgery

Journal of Neuropsychology, EarlyView.
Abstract People with Parkinson disease (PD) after surgery for deep brain stimulation (DBS) of the subthalamic nucleus (STN‐DBS) often decline in animal fluency due to impairments in executive functions and/or language. Item‐based measures of animal fluency may shed light on the specific nature of this decline, and into the strategies used when ...
Adrià Rofes, Nikki Janssen, Janine Rook, Eva de Ronde, R. Saman Vinke, Rianne A. J. Esselink, Annelien A. Duits   +6 more
wiley   +1 more source