Results 191 to 200 of about 5,499,782 (322)

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

[Formula: see text]-roaming dynamics in the formation of [Formula: see text] following two-photon double ionization of ethanol and aminoethanol. [PDF]

Sci Rep
Ngai A, Hartweg S, Asmussen JD, Bastian B, Bonanomi M, Callegari C, Danailov M, di Fraia M, Feifel R, Ganeshamandiram SD, Krishnan S, LaForge A, Landmesser F, Ltaief LB, Michelbach M, Pal N, Plekan O, Rendler N, Raimondi L, Richter F, Scognamiglio A, Sixt T, Squibb RJ, Dulitz K, Stienkemeier F, Mudrich M.   +25 more
europepmc   +1 more source

Learning Chemotherapy Drug Action via Universal Physics-Informed Neural Networks [PDF]

Lena Podina, Ali Ghodsi, Mohammad Kohandel   +2 more
openalex   +1 more source

Electro‐physics‐iology clarified? No spooky action required [PDF]

, 2019
David Miller, David Eisner
openalex   +1 more source

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng, Chenxin Ying, Nan Jin, Jinghong Ma, Xinhua Wan, Xunhua Li, Wei Luo   +6 more
wiley   +1 more source

Author response: Decoding the physics of observed actions in the human brain

Moritz F. Wurm, Doruk Yiğit Erigüç
openalex   +2 more sources

Can de Broglie-Bohm Mechanics Be Considered Complete? [PDF]

Entropy (Basel)
Drezet A, Amblard A.
europepmc   +1 more source

Early BMI Change, Cognitive Decline, and CSF AD Biomarkers Alterations in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the relationship of early BMI change with subsequent cognitive decline, CSF AD biomarkers alterations, and progression to dementia in patients with PD. Methods Study data were prospectively collected from the PPMI cohort. Weight/height data at enrollment and second‐year clinical visit were utilized to calculate BMI change.
Rui Zhong, Kezhong Zhang
wiley   +1 more source

The Animal-AI Environment: A virtual laboratory for comparative cognition and artificial intelligence research. [PDF]

Behav Res Methods
Voudouris K, Slater B, Cheke LG, Schellaert W, Hernández-Orallo J, Halina M, Patel M, Alhas I, Mecattaf MG, Burden J, Holmes J, Chaubey N, Donnelly N, Crosby M.   +13 more
europepmc   +1 more source

Practical actions towards equity in space physics

M. W. Liemohn
openalex   +1 more source