Results 91 to 100 of about 2,510,688 (301)

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

Refining the genetics of muscular dystrophies with defective glycosylation of dystroglycan [PDF]

, 2010
The aberrant glycosylation of α-dystroglycan is associated with a subset of clinically heterogeneous muscular dystrophies collectively referred to as dystroglycanopathies.
Godfrey, C.
core  

Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies [PDF]

, 2010
Includes bibliographical references (leaves 97-115).Duchenne Muscular Dystrophy (DMD) is a lethal, X-linked, recessive muscle-wasting disorder affecting 1 in 3 500 live male births worldwide, for which only palliative care is available to date.
Esterhuizen, Alina
core   +1 more source

Correction to: Newborn screening in mucopolysaccharidoses

Italian Journal of Pediatrics, 2019
The original article contains an unintended omission of a statement of competing interests. As such, the authors would like to declare the following complete statement of competing interests:
Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo, Alberto Burlina   +4 more
doaj   +1 more source

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers, Yueh‐Yun Lin, Jason R. Thonhoff, Aaron D. Thome, Alireza Faridar, Weihua Zhao, Shixiang Wen, Stanley H. Appel   +7 more
wiley   +1 more source

Newborn screening in mucopolysaccharidoses

Italian Journal of Pediatrics, 2018
Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there is a clear evidence that early intervention significantly improves the outcome.
Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo, Alberto Burlina   +4 more
doaj   +1 more source

Disease taxonomy - monogenic muscular dystrophy [PDF]

British Medical Bulletin, 1999
The field of the autosomal recessive progressive muscular dystrophies has clarified significantly following the recent elucidation of the genetic and molecular etiology of a number of these entities. These studies illustrate how genetics provides a rationale and objective basis for a new, refined nosology.
openaire   +2 more sources

Choroid Plexus Enlargement and USPIO‐Based Inflammatory Feature in Cerebral Small Vessel Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The choroid plexus (CP) is a key component of the blood–cerebrospinal fluid barrier (BCSFB), but its mechanism of action in cerebral small vessel disease (CSVD) remains unclear. This study investigated CP volume (CPV) alterations and their association with conventional imaging markers in CSVD and explored the underlying role of ...
Yongqiang Qu, Xiaoning Ren, Cuihua Fan, Chun Li, Lijie Zhang, Zaiqiang Zhang, Shaowu Li, Zhongmeng Lai, Bin Cai, Ying Fu, Yi Lin, Zhibao Zhu   +11 more
wiley   +1 more source

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials [PDF]

, 2010
Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces.
Main, M, Morgan, JE, Straub, V, Feng, L, Sewry, CA, Muntoni, F, Lehovsky, J, Arechavala-Gomeza, V, Kinali, M, Hunt, D, Guglieri, M, Bushby, K, Edge, G   +12 more
core  

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source