Results 191 to 200 of about 104,229 (292)

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

Optimizing Attenuation Correction in ⁶⁸Ga-PSMA PET Imaging Using Deep Learning and Artifact-Free Dataset Refinement. [PDF]

Diagnostics (Basel)
Dorri Giv M, Ozbolat G, Arabi H, Malmir S, Naseri S, Roshan Ravan V, Akbari-Lalimi H, Tabari Juybari R, Divband GA, Raeisi N, Dabbagh Kakhki VR, Askari E, Harsini S.   +12 more
europepmc   +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

Correlation between ultrasonic features and expression of immunohistochemical factors in invasive ductal carcinoma of the breast. [PDF]

Quant Imaging Med Surg
Yang Y, Cheng L.
europepmc   +1 more source

SOLAR HALO OF SEPTEMBER 28, 1916, AT MIAMI, FLA

, 1916
RICHARD W. GARY
openalex   +1 more source

USP10 inhibits the degradation of α-synuclein, a pathogenic factor associated with Parkinson's disease, by inhibiting chaperone-mediated autophagy. [PDF]

J Biol Chem
Anisimov S, Takahashi M, Kakihana T, Katsuragi Y, Sango J, Abe T, Fujii M.   +6 more
europepmc   +1 more source

REMARKABLE HALO OBSERVED AT NASHVILLE, TENN., MARCH 16, 1918.

, 1918
R. M. WILLIAMSON
openalex   +1 more source

CSF Biomarker‐Based Cognitive Trajectories in Parkinson's Disease‐Subjective Cognitive Decline

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive complaints without objective cognitive impairment in Parkinson's Disease, termed Parkinson's Disease‐Subjective Cognitive Decline (PD‐SCD), have been associated with cognitive decline. However, its progression is heterogeneous, highlighting the need for improved identification of patients at greater risk for deterioration ...
Jon Rodriguez‐Antiguedad, Arnau Puig‐Davi, Iñigo Ruíz‐Barrio, Javier Pagonabarraga, Anna Vázquez‐Oliver, Andrea Horta‐Barba, Jaime Kulisevsky, Saül Martínez‐Horta   +7 more
wiley   +1 more source

Rapid Screening of Plastic-Degrading Enzymes Using an Optimized Cell-Free Protein Synthesis Platform. [PDF]

J Microbiol Biotechnol
Yi S, Park J, Park J, Kim KJ, Kim J.
europepmc   +1 more source

An Unusual Solar Halo [PDF]

, 1949
Harlow Shapley, Alexander Wetmore, K. Lark‐Horovitz   +2 more
openalex   +1 more source