Results 51 to 60 of about 1,822 (274)

GARS- related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment [PDF]

, 2020
The majority of patients with spinal muscular atrophy (SMA) identified to date harbor a biallelic exonic deletion of SMN1. However, there have been reports of SMA- like disorders that are independent of SMN1, including those due to pathogenic variants ...
Antonellis, Anthony, Bernes, Saunder, Bharucha‐goebel, Diana, Bi, Weimin, Bonnemann, Carsten, Crosby, Kathleen, Ghosh, Rajarshi, Hong, William, Kuo, Molly E., Lim, Jaehyung, Lotze, Timothy, Manberg, Stephanie, Markovitz, Rebecca, Mizerik, Elizabeth, Mohila, Carrie A., Potocki, Lorraine, Tanpaiboon, Pranoot, Woodbury, Suzanne, Xiao, Rui   +18 more
core   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Sleep and Sleep Disorders in Rare Hereditary Diseases: A Reminder for the Pediatrician, Pediatric and Adult Neurologist, General Practitioner, and Sleep Specialist [PDF]

, 2014
Although sleep abnormalities in general and sleep-related breathing disorders (SBD) in particular are quite common in healthy children; their presence is notably under-recognized.
Arie Oksenberg, Natan Gadoth
core   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

بروز نادر خانوادگی وردينگ هافمن [PDF]

, 2010
مقدمه : بيماری وردينگ هافمن يک بيماری دژنراتيو حرکتی است که از زمان جنينی بيمار را درگير نموده و در دوران شيرخوارگی و کودکی پيشرفت می نمايد. معمولاً مرگ تا سن 2 سالگی و به علت نارسايی تنفسی رخ می دهد.
خالصی, نسرین, رضاخانی, آتوسا, کشاورز, کامبیز   +2 more
core  

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

Developing the FIGO‐IPPS “R U MOVVING SOMe” classification system for female chronic pelvic pain

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract The goal was to develop a pragmatic classification system for conditions associated with chronic pelvic pain (CPP), aiming to enhance diagnosis, management, education, and research of CPP. An international, multidisciplinary panel participated in a modified RAND/UCLA Delphi consensus.
Georgine Lamvu, Juan D. Villegas‐Echeverri, Catherine Allaire, Sawsan As‐Sanie, Jorge Carrillo, Susan Khalil, Andrew W. Horne, Alexander Wang, Malcolm G. Munro   +8 more
wiley   +1 more source

The role of experiential knowledge within attitudes towards genetic carrier screening : a comparison of people with and without experience of spinal muscular atrophy [PDF]

, 2018
Purpose: Autosomal recessive conditions, whilst individually rare, are a significant health burden with limited treatment options. Population carrier screening has been suggested as a means of tackling them.
Boardman, Felicity K., Griffiths, Frances, Warren, O., Young, P.   +3 more
core  

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, EarlyView.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

Spinal muscular atrophy: Factors that modulate motor neurone vulnerability. [PDF]

, 2017
Spinal muscular atrophy (SMA), a leading genetic cause of infant death, is a neurodegenerative disease characterised by the selective loss of particular groups of motor neurones in the anterior horn of the spinal cord with concomitant muscle weakness. To
Heath, P.R., Highley, J.R., Simpson, J.E., Tu, W.Y.   +3 more
core   +1 more source