Results 101 to 110 of about 414,779 (312)

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Behavioural symptoms of attention deficit/hyperactivity disorder in preterm and term children born small and appropriate for gestational age : a longitudinal study [PDF]

, 2010
Background It remains unclear whether it is more detrimental to be born too early or too small in relation to symptoms of attention deficit/hyperactivity disorder (ADHD).
Kajantie E, Dieter Wolke, Aulikki Lano, Kati Heinonen, Andersson Sture, Lano Aulikki, Eriksson Johan G, Andersson, Sture, Lano A, Kajantie, Eero, Raikkonen, Katri, Johan G Eriksson, Eero Kajantie, Heinonen, Kati, Räikkönen K, Eriksson, Johan G., Pesonen AK, Räikkönen Katri, Sture Andersson, Andersson S, Heinonen Kati, Heinonen K, Eriksson, Johan, Wolke Dieter, Eriksson JG, Wolke, Dieter, Lano, Aulikki, Katri Räikkönen, Kajantie Eero, Pesonen Anu-Katriina, Anu-Katriina Pesonen, Pesonen, Anu-Katriina, Wolke D   +32 more
core   +1 more source

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi, Katharine Lee, Kerry C. Nix, Miguel Menchaca, Xiwei Shé, Lorelei Santa Maria, Wei Wu, Zihuai He, Fiona M. Baumer   +8 more
wiley   +1 more source

OUTDOOR POLLUTION AND LOW BIRTH WEIGHT

نشریه پرستاری ایران, 2003
Air pollution, as an environmental factor affects the health status and growth of the fetus, considering that the air pollutants have dramatically increased in Tehran, reviewing the effects of them on the health situation of infants, which are very ...
A Bagher Zade, F Oskouie, Z Feizi, M Mahmoodi   +3 more
doaj  

Birth weight and premature ovarian insufficiency: a systematic review and meta-analysis

Journal of Ovarian Research
Objective To comprehensively evaluate the effect of low birth weight on premature ovarian insufficiency. Methods We performed a systematic review of the literature by searching MEDLINE, EMBASE, Web of Science, Scopus, Wanfang and CNKI up to August 2023 ...
Chengyang Jiang, Tongqing Gao, Yuwei Wang, Wenqiang Yang, Huan Huang, Yushan Li, Xinghai Yang   +6 more
doaj   +1 more source

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

Relationship between mothers’ weight gain during pregnancy, neonatal birth ‎weight and cesarean cases in villages and cities

Journal of Holistic Nursing and Midwifery, 2005
Introduction: The goal of prenatal care is maintenance of mother health and delivery of a ‎healthy neonate. Weight gain is the most obvious physical change during pregnancy and ‎controlling mother weight plays an important role in safe process of
maryam asgharnia, ziba zahiri, zivar kashoofi   +2 more
doaj  

Teen Smoking and Birth Outcomes [PDF]

In the U.S. teen mothers are more likely to give birth to low birth weight babies than non-teen mothers. There is also substantial evidence that smoking is a risk factor correlated with low birth weight.
Erdal Tekin, Sally Wallace, MaryBeth Walker   +2 more
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

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