Results 221 to 230 of about 178,775 (272)

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Mesozoic Tectonic Setting and Evolution in Kuqa Depression of the Tarim Basin: A Study of Detrital Zircons and Geochemistry. [PDF]

ACS Omega
Li H, Liu Y, Wang S, Xi K, Yang X, Yu G.
europepmc   +1 more source

The nobiliary concept of play as a mechanism for ethical-political distinction in the Late Middle Ages. (El imaginario lúdico de la nobleza como dispositivo de la distinción ético-política en la Baja Edad Media Occidental). [PDF]

, 2008
Manuel Rodríguez López, Miguel Vicente Pedraz   +1 more
openalex  

Relationship of cognitive decline with glucocerebrosidase activity and amyloid‐beta 42 in DLB and PD

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Dementia with Lewy bodies (DLB) and Parkinson's disease (PD) share clinical, pathological, and genetic risk factors, including GBA1 and APOEε4 mutations. Biomarkers associated with the pathways of these mutations, such as glucocerebrosidase enzyme (GCase) activity and amyloid‐beta 42 (Aβ42) levels, may hold potential as predictive ...
Maria Camila Gonzalez, Linn Oftedal, Johannes Lange, Diego Alejandro Tovar‐Rios, Ole‐Bjørn Tysnes, Claire Paquet, Marta Marquié, Mercè Boada, Daniel Alcolea, Konrad Rejdak, Ewa Papuc, Jakub Hort, Cristian Falup‐Pecurariu, Dag Aarsland, Guido Alves, Jodi Maple‐Grødem   +15 more
wiley   +1 more source

Using Mg isotopes to constrain the formation temperature of dolomite. [PDF]

Sci Rep
Li X, Zhu G, Ai Y, Zhang Z, Chen W, Li T, Zhang Y, Duan P.   +7 more
europepmc   +1 more source

If it does not help, it might hurt: Pharmacodynamics of a second IVIg course in Guillain–Barré syndrome

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objectives Intravenous immunoglobulin (IVIg) is an effective treatment for Guillain–Barré syndrome (GBS), but recovery varies between patients. This study aims to evaluate the pharmacokinetics (PK) and pharmacodynamics (PD) of a single and a second IVIg dose (SID) in patients with GBS.
Sander J. van Tilburg, Ruth Huizinga, Krista Kuitwaard, Sebastiaan D.T. Sassen, Christa Walgaard, Pieter A. van Doorn, Bart C. Jacobs, Birgit C.P Koch   +7 more
wiley   +1 more source

Unveiling the female experience through adult mortality and survivorship in Milan over the last 2000 years. [PDF]

Sci Rep
Biehler-Gomez L, Yaussy S, Moro C, Morandini P, Mondellini M, Petrosino D, Mattia M, Del Bo B, Cattaneo C.   +8 more
europepmc   +1 more source

The burden of intracranial atherosclerosis on cerebral small vessel disease: A community cohort study

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Exploring the prevalence and association between intracranial atherosclerosis (ICAS) and cerebral small vessel diseases (CSVD), this study delved beyond the current scope, utilising high‐resolution vessel wall MRI (HRVW‐MRI) to investigate how subtle changes in intracranial atherosclerotic features influence the various burdens of ...
Joseph Amihere Ackah, Heng Du, Wenjie Yang, Huixing Zeng, Jason Tsz Lok Chan, Michael Lung Cheung Lo, Xiangyan Chen   +6 more
wiley   +1 more source

Age of the Western Iron Ore Group, India, and implications for pre-GOE oxygenation of oceans at the twilight of Archean-Proterozoic transition. [PDF]

Sci Rep
Mukhopadhyay J, Ngobeli R, Ghosh G, Elburg MA.   +3 more
europepmc   +1 more source

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron, Remika Mito, Samuel F. Berkovic, Graeme D. Jackson   +3 more
wiley   +1 more source