Results 211 to 220 of about 1,868,629 (331)

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

Long-term risk of late-life depression in widowed elderly: a five-year follow-up study. [PDF]

BMC Geriatr
Li Y, Xu H, Wu J, Ding Y, Zhu Y, Wang Y, Chen X, Su H.   +7 more
europepmc   +1 more source

LINC00323 variant is associated with increased risk of essential tremor

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Essential tremor (ET) is a common adult movement disorder, with accumulating evidence suggesting that genetic factors primarily account for ET risk. However, replication studies on the genetic variants have yielded inconsistent results. In our case–control study, we show that the LINC00323 variant, identified in a European GWAS study, is ...
Brendan Tan, Ebonne Ng, Qiao Yang Sun, Aaron Mai, Ling‐Ling Chan, Thomas Welton, Kumar M. Prakash, Kay Yaw Tay, Wing Lok Au, Louis C.S. Tan, Eng‐King Tan, Bin Xiao   +11 more
wiley   +1 more source

Birthplace as a capital: migratory flow, labor opportunities, and social reproduction in Brazilian men elite futsal players' careers. [PDF]

Front Sociol
de Souza IS, Morbi MDR, Alves IVG, Ricci CS, Marques RFR.   +4 more
europepmc   +1 more source

Clubbing of the Fingers [PDF]

, 1949
W. P. U. Jackson
openalex   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Transforming education: tackling the two sigma problem with AI in journal clubs - a proof of concept. [PDF]

BDJ Open
Umer F, Naved N, Naseem A, Mansoor A, Kazmi SMR.   +4 more
europepmc   +1 more source

The noble science : a few general ideas on fox-hunting, for the use of the rising generation of sportsmen, and more especially those of the Hertfordshire hunt club / By F.P. Delmé Radcliffe ; With numerous illustrations from original designs by his broth.

F. P. Delmé Radcliffe
openalex   +2 more sources

The birds of eastern Pennsylvania and New Jersey, with introductory chapters on geographical distribution and migration, prepared under the direction of the Delaware Valley Ornithological Club by Witmer Stone.

, 1894
Witmer Stone
openalex   +2 more sources

The Relapsed Club Foot [PDF]

, 1951
A. T. Fripp
openalex   +1 more source