Results 181 to 190 of about 1,879,885 (315)

Technological Advancements in Human Navigation for the Visually Impaired: A Systematic Review. [PDF]

Sensors (Basel)
Casanova E, Guffanti D, Hidalgo L.
europepmc   +1 more source

JACMP 2020–2024

Journal of Applied Clinical Medical Physics, EarlyView.
Susan L. Richardson
wiley   +1 more source

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 Clinical Decision Support System Functionality by Leveraging Specific Human-Computer Interaction Elements: Insights From a Systematic Review.

JMIR Hum Factors
Azadi A, García-Peñalvo FJ.
europepmc   +1 more source

Breast cancer pathology image recognition based on convolutional neural network. [PDF]

PLoS One
Fang W, Tang S, Yan D, Dai X, Zhang W, Xiong J.   +5 more
europepmc   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

iSeqSearch: incremental protein search for iBlast/iMMSeqs2/iDiamond. [PDF]

PeerJ
Yoo H, Refahi M, Polikar R, Sokhansanj BA, Brown JR, Rosen GL.   +5 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

Computer-aided diagnosis of Haematologic disorders detection based on spatial feature learning networks using blood cell images. [PDF]

Sci Rep
Alsamri J, Alqahtani H, Al-Sharafi AM, Darem AA, Nazim K, Sattar A, Alshammeri M, Alzahrani AA, Obayya M.   +8 more
europepmc   +1 more source

Management and Outcomes in Confirmed or Suspected Acute Symptomatic Seizure: Role of Structured Outpatient Care

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Post‐discharge management and outcomes of acute symptomatic seizures (ASyS) remain underexplored. We analyzed post‐discharge ASM management and outcomes in ASyS patients undergoing continuous EEG (cEEG), including the role of outpatient care through a post‐acute symptomatic seizure (PASS) clinic. Methods We performed a single‐center,
Vineet Punia, MarieElena Byrnes, Nicolas R. Thompson, Neishay Ayub, Clio Rubinos, Sahar Zafar, Adithya Sivaraju, Zhong Ying, Jessica R. Fesler, Stephen Hantus, Post‐Acute Symptomatic Seizure Investigation and Outcomes Network (PASSION) investigators   +10 more
wiley   +1 more source