Results 121 to 130 of about 2,422,081 (245)

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Comparison of clinical outcomes and perinatal outcomes between natural cycle and hormone replacement therapy of frozen-thawed embryo transfer in patients with regular menstruation: a propensity score-matched analysis

Frontiers in Endocrinology
PurposeTo investigate potential differences in pregnancy outcomes among patients with regular menstruation who underwent frozen-thawed embryo transfer using natural cycle (NC) or hormone replacement therapy (HRT).MethodsThis study retrospectively ...
Lin Sun, Beining Yin, Zhiyi Yao, Congli Zhang, Jinyu Li, Sichen Li, Yueyue Cui, Fang Wang, Wei Dai, Zhiqin Bu, Yile Zhang, Yile Zhang   +11 more
doaj   +1 more source

Interval between births, United States, 1970-1977; an analytical review of recent trends and differentials in the interval between the current live birth and previous live birth or fetal death

An analytical review of recent trends and differentials in the interval between the current live birth and previous live birth or fetal death.Authors: Ernell Spratley and Selma Taffel.DHHS publication ; no.

core  

Each Piece

, 2017
A verbatim theatre enquiry into dementia, based on interviews with those living with dementia and their ...
Live Theatre, Gilroy, Steve
core  

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Live birth outcomes after euploid transfer: autologous vs. donor oocyte embryos in patients aged > 35 years

F&S Reports
Objective: To compare live birth outcomes between euploid donor oocyte and euploid autologous oocyte–derived embryos among patients with advanced maternal age.
Peter Lindner, M.D., Kerry Flannagan, Ph.D., Howard J. Li, M.D., Jerry Wang, M.S., Luis R. Hoyos, M.D., Meike L. Uhler, M.D., Michael Homer, M.D., Kate Devine, M.D., Micah Hill, D.O., Phillip Romanski, M.D., M.Sc.   +9 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Live Birth [PDF]

, 2020
openaire   +1 more source

Birth Defects Res A Clin Mol Teratol [PDF]

BackgroundIn a recent study, high maternal periconceptional intake of vitamin E was found to be associated with risk of congenital heart defects (CHDs).

core   +2 more sources

Pregnancy outcomes after fresh and frozen embryo transfer in women of advanced age and analysis of influencing factors: single-center experience

Frontiers in Endocrinology
ObjectiveTo investigate the differences in pregnancy outcomes between fresh embryo transfer (ET) and frozen embryo transfer (FET) in women of advanced age undergoing assisted reproductive technology (ART), and to provide evidence for optimizing embryo ...
Hongyan Jia, Jiahui Zhao, Xueqin Li, Ning Yang, Huaiyun Tang, Lisha Tang   +5 more
doaj   +1 more source