Results 271 to 280 of about 122,498 (328)

A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Non‐syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy.
Andrea Guala, Fabio Sirchia, Claudia Scotti, Elena Rossi, Roberta Falcioni, Silvano Ragozza, Antonella Casella, Enza Maria Valente, Cesare Danesino   +8 more
wiley   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Comparative analysis of two newly established Cre rat lines, NeuN‐Cre and Thy1‐Cre, for neurological research

Animal Models and Experimental Medicine, EarlyView.
We generated two neuron‐specific Cre rat lines, Thy1‐Cre and NeuN‐Cre, using CRISPR/Cas9‐mediated targeted insertion. Both lines were validated for high neural specificity by crossing them with a Cre reporter rat. When bred with an ND1 conditional knockout rat, the two Cre lines produced distinct phenotypic outcomes. These rat lines have been deposited
Keru Li, Chenyang Liu, Gefan Wan, Lei Zhang, Rui Fan, Xu Zhang, Yuanlong Su, Jiayue He, Ning Liu, Feifei Guan, Wei Dong, Shan Gao, Weining Kong, Xiaolong Qi, Xiaolin Zhang, Yuanwu Ma   +15 more
wiley   +1 more source

Processivity and BDNF-dependent modulation of signalling endosome axonal transport are impaired in aged mice

Villarroel-Campos D, Rhymes ER, Tosolini AP, Malik B, Vagnoni A, Schiavo G, Sleigh JN.   +6 more
europepmc   +1 more source

Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy

, 2023
Rhymes ER, Simkin RL, Qu J, Villarroel-Campos D, Surana S, Tong Y, Shapiro R, Burgess RW, Yang X, Schiavo G, Sleigh JN.   +10 more
europepmc   +1 more source

Research advances in dysphagia animal models

Animal Models and Experimental Medicine, EarlyView.
This review systematically summarizes the establishment, evaluation, and detection of dysphagia animal models in stroke, Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS) in three kinds of experimental animals (including rodents, nonhuman primates, and other mammals), providing a basis for the selection of appropriate animal models of ...
Junhui Bai, Keling Cheng, Nannan Zhang, Yunfang Chen, Jun Ni, Zhiyong Wang   +5 more
wiley   +1 more source

Efficient axonal transport of endolysosomes relies on the balanced ratio of microtubule tyrosination and detyrosination.

J Cell Sci
Konietzny A, Han Y, Popp Y, van Bommel B, Sharma A, Delagrange P, Arbez N, Moutin MJ, Peris L, Mikhaylova M.   +9 more
europepmc   +1 more source

Punctate White Matter Abnormality in Moderate‐to‐Late Preterm Infants

Annals of Neurology, EarlyView.
Objective Moderate‐to‐late preterm (MLP) infants contribute to the greatest proportion of preterm children with neurodevelopmental impairments. White matter injury (WMI) is common and predicts adverse outcomes in very preterm (VP) infants. However, little is known about white matter abnormality (WMA) in MLP infants.
Eleanor Kennedy, Ting Guo, Sian Williams, Thiviya Selvanathan, Jane M. Alsweiler, Frank H. Bloomfield, Malcolm Battin, David Dubowitz, Steven P. Miller, Catherine Morgan, David Perry, Ngaire Susan Stott, Jane E. Harding, for the MR DIAMOND and MoPED Study Groups   +13 more
wiley   +1 more source

New Horizons for Multiple Sclerosis Therapy: 2025 and Beyond

Annals of Neurology, EarlyView.
The advances achieved against multiple sclerosis (MS) represent one of the great success stories of modern molecular medicine. The development of therapies with increasing selectivity and safety, guided by gains in understanding the fundamental immunology, neurobiology, genetics, and triggers of this disease, have broadened the traditional focus on ...
Joseph J. Sabatino Jr., Bruce A. C. Cree, Stephen L. Hauser   +2 more
wiley   +1 more source

Axonal Transport with Attachment and Detachment to Parallel Microtubule Network [PDF]

, 2018
Choudhary, Abhishek, Mr.
core   +1 more source