Results 111 to 120 of about 9,291 (257)

Relevance of components of the hypothalamic–pituitary–gonadal axis in the pathophysiology of nervous system proteinopathies

Revista Habanera de Ciencias Médicas, 2019
Introduction: Several proteinopathies of the nervous system are associated with disturbances in components of the hypothalamic–pituitary–gonadal axis.Objective: To assess the relevance of components of the hypothalamic–pituitary–gonadal axis to the ...
Kenia Hechevarría Bárzaga, Raúl Aguilera Rodríguez, Dennis Almaguer Gotay, Amarilis Álvarez Sosa, Luis Enrique Almaguer Mederos   +4 more
doaj  

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Scalable ω‐Substituted α‐Olefins via Living Chain Transfer Telomerization: A Platform for Next Generation Polyolefins

Angewandte Chemie, EarlyView.
A highly versatile and general strategy is presented for the scalable production of practical quantities of ω‐substituted α‐olefins using tris(ω‐substituted alkyl)aluminum telogens that are readily available through a “green” synthesis from commodity triisobutylaluminum and ethene as the taxogen. These new α‐olefins can be designed and used as monomers
Lauren G. Logue, Cole M. Burrows, Vince J. Wedekind, Hyunku C. Kim Jr., Lawrence R. Sita   +4 more
wiley   +2 more sources

Pace-Induced Saccades in Essential Tremor Differ from Those in Parkinson's Disease and Degenerative Ataxias. [PDF]

J Clin Med
Wójcik-Pędziwiatr M, Rudzińska-Bar M.
europepmc   +1 more source

Gephyrin Neurological Autoimmunity

Annals of Neurology, EarlyView.
Gephyrin is a postsynaptic scaffold protein essential for inhibitory neurotransmission. Gephyrin‐immunoglobulin G (IgG) was reported, decades ago, in a single case of paraneoplastic stiff‐person‐like syndrome, but its broader clinical relevance remains unknown.
Maria Chiara Pantuliano, Friederike A. Arlt, Naomi Arenson, Irena Dujmovic Basuroski, Divyanshu Dubey, Connie E. Lesnick, John R. Mills, Sean J. Pittock, Anastasia Zekeridou, Michael A. Lane, Andrew McKeon   +10 more
wiley   +1 more source

Functional and Network PHAs via Stereoselective Polymerization and Tailored Post‐Transformation

Angewandte Chemie, EarlyView.
Catalyst‐controlled stereoselective (co)polymerization of functionalized lactones produces vinyl‐, allyl‐, and propargyl‐functionalized PHAs with high syndiotacticity and a broad applicable temperature window, which can be further transformed into crosslinked PHA thermosets, elastic supramolecular networks, and functional grafts. ABSTRACT Incorporation
Ruirui Li, Yingluo Zhao, Jun‐Jie Tian, Ethan C. Quinn, Yunpeng Gao, Maëlle T. Gace, Eugene Y.‐X. Chen   +6 more
wiley   +2 more sources

Early Neuroimmune Modulation in Hereditary Cerebellar Ataxias: Experimental Opportunities in Zebrafish Models. [PDF]

Cells
Naef V, Giacich M, Damiani D, Santorelli FM.   +3 more
europepmc   +1 more source

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing

Annals of Neurology, EarlyView.
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto, Michael Bonomo, Brianna S. Nelthrope, Benjamin D. Carr, Emma Palmer, Mariana Sierra, Ilkim Erturk, David Peppercorn, Eleonor Cox, Tiare K. Vasconcellos, Henry L. Paulson, Hannah K. Shorrock, Sharan R. Srinivasan   +12 more
wiley   +1 more source

Proinflammatory Epstein–Barr Virus Antibody Functions Track with Disease Activity in Multiple Sclerosis

Annals of Neurology, EarlyView.
Objective Epstein–Barr virus (EBV) has been implicated in the pathogenesis of multiple sclerosis (MS). Elevated immunoglobulin G (IgG) titers against EBV nuclear antigen 1 (EBNA1) represent the most consistent serological marker of MS risk, with levels remaining persistently elevated following disease onset.
Malina Behrens, Paula Terroba‐Navajas, Eline A.J. Willemse, Sabine Schädelin, Manuel Comabella, Christian Münz, Gordan Lauc, Yannic Bartsch, Jens Kuhle, Jan D. Lünemann   +9 more
wiley   +1 more source

Frontal ataxia: a frequent but underrecognized disorder in the spectrum of ataxias. [PDF]

Arq Neuropsiquiatr
Cassarotti B, Bonilha PAAM, Nunes TEM, Coutinho L, Camargo CHF, Teive HAG.   +5 more
europepmc   +1 more source