Results 271 to 280 of about 449,093 (327)

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

Correction: PAHG: the database of human multi-gene families

BMC Genomic Data
Ramsha Azhar, Muhammad Faizan Malik, Rozeena Arif, Muhammad Waqas Khokhar, Yasir Mehmood Abbasi, Fatima Batool, Muhammad Haseeb Jalalzai, Yiming Bao, Amir Ali Abbasi   +8 more
doaj   +1 more source

Comparative Genomics Reveals Conserved Ophiobolin Biosynthetic Gene Cluster and Necrotrophic Adaptation in Bipolaris oryzae. [PDF]

Plant Pathol J
Hue Y, Nam Y, Choi B, Kim S, Jang SH, Chung H, Park SY, Kim KT.   +7 more
europepmc   +1 more source

Portable Low‐Field Magnetic Resonance Imaging in People With Human Immunodeficiency Virus

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aging population of people with HIV (PWH) raises heightened concerns regarding accelerated aging and dementia. Portable, low‐field MRI (LF‐MRI) is an innovative technology that could enhance access and facilitate routine monitoring of PWH.
Annabel Sorby‐Adams, Malachi Keo, Jennifer Guo, Daire Daly, Richard Ahern, Kimon Zachary, Gregory Robbins, Rajesh T. Gandhi, Bragi Sveinsson, Adam de Havenon, Kevin N. Sheth, Otto Rapalino, Juan Eugenio Iglesias Gonzales, W. Taylor Kimberly, Shibani S. Mukerji   +14 more
wiley   +1 more source

LoVis4u: a locus visualization tool for comparative genomics and coverage profiles. [PDF]

NAR Genom Bioinform
Egorov AA, Atkinson GC.
europepmc   +1 more source

Basilar Artery Occlusion Stroke Managed With Tenecteplase Versus Alteplase Before Endovascular Treatment (BAO‐TNK)

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To compare the effectiveness and safety of tenecteplase (TNK) versus alteplase (TPA) in patients with basilar artery occlusion prior to endovascular treatment (EVT). Methods In this retrospective multicenter study (BAO‐TNK), we analyzed consecutive BAO patients from 14 U.S.
Rahul R. Karamchandani, Dylan N. Wolman, Tyler M. Bielinski, Nitin Goyal, Jeremy B. Rhoten, Mahesh V. Jayaraman, Christian T. Sidebottom, Bradley A. Gross, Alhamza R. Al‐Bayati, Mohamed F. Doheim, Matthew K. Tobin, Anoop Chinthala, Avi Gajjar, Justin Mascitelli, Matthew R. Webb, Jan‐Karl Burkhardt, Kyle W. Scott, Visish Srinivasan, Daniel Tonetti, Manisha Koneru, David J. Altschul, Dhrumhil Vaishnav, Sumeet Multani, Thana Theofanis, William J. Ares, Je Yeong Sone, Ramin Zand, Sasan Bahrami, Jiang Li, Gary Defilipp, Dale Strong, Radmehr Torabi, Krisztina Moldovan, Kelsey E. Kline, Clemens M. Schirmer, Raul G. Nogueira, Alexandra R. Paul, Bradley N. Bohnstedt, Philipp Hendrix   +38 more
wiley   +1 more source

Comparative genomics of blood and faecal E. coli and K. pneumoniae isolates from neonates with bloodstream infections in Tanzania. [PDF]

Commun Biol
Goodman RN, Moyo SJ, Memelis I, Khanijau A, Manyahi J, Kibwana UO, Aboud S, Blomberg B, Langeland N, Roberts AP.   +9 more
europepmc   +1 more source

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

Genomic Erosion Through the Lens of Comparative Genomics

Wang X, Fontsere C, Caballero XA, Nielsen SD, Groombridge J, Hansson B, van Oosterhout C, Pacheco C, Morales HE.   +8 more
europepmc   +1 more source

Investigating the Biological Characteristics and Pathogenic Potential of <i>Listeria innocua</i> Isolated from Food Through Comparative Genomics. [PDF]

Microorganisms
Zhang B, Cao R, Wang Q, Hu P, Li Y, Liu Z, Xue Z, Wang W, Zhang S, Wang X.   +9 more
europepmc   +1 more source