Results 71 to 80 of about 80,831 (209)

Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practice [PDF]

, 2003
Huntington disease (HD) is a eurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1%
A Durr, Alda Sousa, B Kremer, Carolina Garrett, CM James, Cristina Januário, D Craufurd, D Falush, DGR Evans, EW Almqvist, Fernando Regateiro, Fátima Ferreirinha, Isabel Gaspar, J Sambrook, JB Martin, Jorge Sequeiros, José Vale, Laura Guimarães, Leal Loureiro, M Guida, M Losekoot, Maria do Carmo Costa, Marina Magalhães, MR Hayden, Patrícia Maciel, Paula Magalhães, PS Harper, PS Harper, RC Moore, RG Snell, RH Myers, S Siesling, SA Simpson, SE Andrew, SE Andrew, SE Andrew, SE Andrew, SE Holmes, YP Goldberg, YP Goldberg   +39 more
core   +1 more source

Cortical and Striatal Circuits in Huntington's Disease

, 2020
Huntington's disease (HD) is a hereditary neurodegenerative disorder that typically manifests in midlife with motor, cognitive, and/or psychiatric symptoms.
Blumenstock, S., Dudanova, I.
core   +1 more source

Corticostriatal Transmission Is Selectively Enhanced in Striatonigral Neurons with Postnatal Loss of Tsc1. [PDF]

, 2018
mTORC1 is a central signaling hub that integrates intra- and extracellular signals to regulate a variety of cellular metabolic processes. Mutations in regulators of mTORC1 lead to neurodevelopmental disorders associated with autism, which is ...
Bateup, Helen S, Benthall, Katelyn N, Ong, Stacie L   +2 more
core   +2 more sources

Adult‐Onset Dystonia‐Parkinsonism: Do Not Forget SERAC1

Movement Disorders Clinical Practice, EarlyView.
Giulia Scacciatella, Costanza Masetti, Vidal Yahya, Mauro Treddenti, Gaia Oggioni, Tommaso Bocci, Laura Campiglio, Manuela Zardoni, Chiara Rosci, Marta Pengo, Chiara Manfredi, Roberto Del Bo, Edoardo Monfrini, Alessio Di Fonzo, Maurizio Inghilleri, Alberto Priori   +15 more
wiley   +1 more source

Juvenile Huntington's disease: a population-based study using the General Practice Research Database

BMJ Open, 2013
Background The juvenile form of Huntington's disease (HD) is a rare disorder. There are no population-based estimates of either its incidence or prevalence in any population in the world.
I. Douglas, S. Evans, M. Rawlins, L. Smeeth, S. Tabrizi, N. Wexler   +5 more
semanticscholar   +1 more source

G9a an Epigenetic Therapeutic Strategy for Neurodegenerative Conditions: From Target Discovery to Clinical Trials

Medicinal Research Reviews, Volume 45, Issue 3, Page 985-1015, May 2025.
ABSTRACT This review provides a comprehensive overview of the role of G9a/EHMT2, focusing on its structure and exploring the impact of its pharmacological and/or gene inhibition in various neurological diseases. In addition, we delve into the advancements in the design and synthesis of G9a/EHMT2 inhibitors, which hold promise not only as a treatment ...
Aina Bellver‐Sanchis, Marta Ribalta‐Vilella, Alba Irisarri, Pinky Gehlot, Bhanwar Singh Choudhary, Abhisek Jana, Vivek Kumar Vyas, Deb Ranjan Banerjee, Mercè Pallàs, Ana Guerrero, Christian Griñán‐Ferré   +10 more
wiley   +1 more source

Translational neurophysiology in sheep:Measuring sleep and neurological dysfunction in CLN5 affected Batten disease sheep [PDF]

, 2015
This is the final published version of a paper originally published in BRAIN 2015: 138; 862?874, DOI: http://dx.doi.org/10.1093/brain/awv026Creating valid mouse models of slowly progressing human neurological diseases is challenging, not least because ...
Bartsch, Ullrich, Jones, Matt, Martins, Amadeu Q, Mitchell, Nadia L, Morton, A Jennifer, Palmer, David N, Perentos, Nicholas, Watson, Thomas C   +7 more
core   +2 more sources

Mitochondria‐Associated Membranes: A Key Point of Neurodegenerative Diseases

CNS Neuroscience &Therapeutics, Volume 31, Issue 5, May 2025.
ABSTRACT Background Neurodegenerative diseases pose significant health challenges in the 21st century, with increasing morbidity and mortality, particularly among the elderly population. One of the key factors contributing to the pathogenesis of these diseases is the disrupted crosstalk between mitochondria and the endoplasmic reticulum.
Yiwei Zhang, Xiuqin Rao, Jiayi Wang, Hantian Liu, Qixian Wang, Xifeng Wang, Fuzhou Hua, Xilong Guan, Yue Lin   +8 more
wiley   +1 more source

The Power Struggle: Kynurenine Pathway Enzyme Knockouts and Brain Mitochondrial Respiration

Journal of Neurochemistry, Volume 169, Issue 5, May 2025.
Kynurenine pathway enzyme knockouts impair mitochondrial respiration. The deletion of kynurenine aminotransferase genes leads to significant impairment of mitochondrial respiration and ATP production, highlighting the critical role these enzymes play in cellular energy metabolism.
László Juhász, Krisztina Spisák, Boglárka Zsuzsa Szolnoki, Anna Nászai, Ágnes Szabó, Attila Rutai, Szabolcs Péter Tallósy, Andrea Szabó, József Toldi, Masaru Tanaka, Keiko Takeda, Kinuyo Ozaki, Hiromi Inoue, Sayo Yamamoto, Etsuro Ono, Mihály Boros, József Kaszaki, László Vécsei   +17 more
wiley   +1 more source

F53 Introducing join-HD: the juvenile onset initiative for huntington’s disease [PDF]

, 2021
Rebecca S. Mason, Marina Papoutsi, Beth Ann Griffin, Catherine Martin, Bonnie Hennig-Trestman, Oliver Quarrell, Lauren M. Byrne   +6 more
openalex   +1 more source