Results 121 to 130 of about 178,696 (298)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

具有简单G3条件的可调曲线曲面(Adjustable curves and surfaces with simple G3 conditions)

Zhejiang Daxue xuebao. Lixue ban, 2016
In order to make curves and surfaces have adjustable shape and simple G3 conditions,a kind of EI functions is defined recursively. Based on them, we construct EI curves and surfaces,which have the most properties of Bézier curves and surfaces. Owe to the
YANLanlan(严兰兰), YINGZhengwei(应正卫)   +1 more
doaj   +1 more source

Comparative Effectiveness and Safety of Inebilizumab Versus Rituximab in AQP4‐IgG‐Positive NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rituximab (anti‐CD20, RTX) and inebilizumab (anti‐CD19, INE) represent B‐cell‐depleting therapies used for aquaporin‐4 antibody‐positive (AQP4‐IgG+) neuromyelitis optica spectrum disorder (NMOSD); however, direct comparative evidence remains limited.
Jie Lin, Binbin Xue, Dewei Xie, Jia Li, Juyuan Pan, Lanbing Zhu, Qiaowen Tong, Jing Lin, Ruofan Zhu, Xu Zhang, Junhui Xia, Xiang Li   +11 more
wiley   +1 more source

On extra-special Enriques surfaces

We refine Cossec and Dolgachev’s classification of extra-special Enriques surfaces, providing a complete and concise proof.Open Access funding enabled and organized by Projekt DEAL.Gottfried Wilhelm Leibniz Universität Hannover ...
Mezzedimi, Giacomo, Martin, Gebhard, Veniani, Davide Cesare   +2 more
core   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Special issue on functional surfaces of biomaterials

Biosurface and Biotribology, 2015
Nan Huang, Manfred Maitz
doaj   +1 more source

Integration of Serum Neurofilament Light Chain and Cortical Dysfunction Improves Diagnostic Accuracy in ALS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether integration of serum neurofilament light chain (NfL) and cortical dysfunction improves diagnostic accuracy in amyotrophic lateral sclerosis (ALS) when applied alongside the Gold Coast criteria (GCC). Methods In this prospective study, 148 participants with suspected ALS were recruited (101 ALS and 47 with ALS ...
Aicee Dawn Calma, Nathan Pavey, Yukiko Tsuji, Amirul Ab Ghapar, Mehdi A.J. van den Bos, Bronwen Orden, Grace Lee, Linda Mekhael, Julie Ryder, Cláudia Santos Silva, David McDonald, Fakhria Kakar, Con Yiannikas, Matthew C. Kiernan, David A. Brown, Parvathi Menon, Steve Vucic   +16 more
wiley   +1 more source

Special Weingarten surfaces with planar convex boundary

In this paper, we prove a Ros-Rosenberg theorem in the setting of Special Weingarten surfaces. We show that a compact, connected, embedded, Special Weingarten surface in R3+ with planar convex boundary is a topological disk under mild suitable ...
Nelli B., Pipoli G., Tassi M. P.
core   +1 more source

The scale free and scale - bound properties of land surfaces: fractal analysis and specific geomorphometry from digital terrain models [PDF]

, 1990
The scale-bound view of landsurfaces, being an assemblage of certain landforms, occurring within limited scale ranges, has been challenged by the scale-free characteristics of fractal geometry.
McClean, Colin John
core  

Special proper pointwise slant surfaces of a locally product Riemannian manifold

, 2015
The structure of pointwise slant submanifolds in an almost product Riemannian manifold is investigated and the special proper pointwise slant surfaces of a locally product manifold are introduced.
Gulbahar, Mehmet, Kilic, Erol, Celik, Semra Saracoglu   +2 more
core   +2 more sources