Results 131 to 140 of about 210,409 (218)

Differential contributions of β-tubulin isotypes to acentrosomal oocyte meiosis in C. elegans. [PDF]

J Cell Biol
Nsamba ET, Villeneuve AM.
europepmc   +1 more source

Patient‐Mounted Neuro Optical Coherence Tomography for Targeted Minimally Invasive Micro‐Resolution Volumetric Imaging in Brain In Vivo

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
Herein, a patient‐mounted neuro optical coherence tomography system that integrates a 5 degrees‐of‐freedom skull‐mounted robot (Skullbot) with a 0.6 mm neuroendoscope for targeted, minimally invasive deep brain imaging, is developed. The system offers high‐resolution imaging with precise deployment, demonstrated through successful tumor imaging in a ...
Chao Xu, Zhiwei Fang, Huxin Gao, Tinghua Zhang, Tao Zhang, Peng Liu, Hongliang Ren, Wu Yuan   +7 more
wiley   +1 more source

Human brain-wide activation of sleep rhythms. [PDF]

Elife
Wang H, Zou Q, Zhang J, Gao JH, Liu Y.
europepmc   +1 more source

Fatigue‐Driven Adaptive Assistance for a Semi‐Active Upper‐Limb Occupational Exoskeleton

Advanced Intelligent Systems, EarlyView.
Physical fatigue during a physical activity is estimated in real time to enable adaptive exoskeleton assistance. By continuously adjusting the level of support according to the user’s fatigue, this approach reduces physical demand and provides a pathway toward personalized exoskeleton assistance.
Seemab Zakir, Lorenzo Grazi, Simone Prisinzano, Francesco Giovacchini, Nicola Vitiello, Emilio Trigili, Simona Crea   +6 more
wiley   +1 more source

Whole-mount optical clearing of rabbit tenuissimus muscle for assessment of muscle spindle morphology. [PDF]

Front Neurosci
Reedich EJ, Moline BC, Opesade OS, Kramer C, Glennon JE, Fraatz E, Quinlan KA, Manuel M.   +7 more
europepmc   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

RBPMS::NTRK3-rearranged sacral malignant spindle cell tumor in neurofibromatosis diagnosed by RNA sequencing: a case report and literature review. [PDF]

Front Med (Lausanne)
Chen C, Qi B, Miao Y, Zhuang Z, Wang C, Dai W.   +5 more
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Cell size reduction distinctly scales spindle elongation and chromosome segregation in C. elegans. [PDF]

Nat Commun
Okafornta CW, Farhadifar R, Fabig G, Wu HY, Köckert M, Vogel M, Baum D, Haase R, Shelley MJ, Needleman DJ, Müller-Reichert T.   +10 more
europepmc   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source