Results 41 to 50 of about 1,822 (274)
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell +21 more
wiley +1 more source
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease
Annals of Neurology, EarlyView.Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate ...
Berta Estévez‐Arias +23 more
wiley +1 more source
Анализ социально-экономического бремени спинальной мышечной атрофии в Российской Федерации [PDF]
, 2021 Introduction. Spinal muscular atrophies (SMA) are clinically and genetically heterogeneous congenital orphan diseases that lead to progressive spinal motoneurons degeneration and loss of their function. There are 4 types of SMA with type I being the most
A. A. Kurylev +15 more
core +2 more sources
Annals of Neurology, EarlyView.Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell +3 more
wiley +1 more source
Psychopharmacological Treatments for Mental Disorders in Patients with Neuromuscular Diseases: A Scoping Review [PDF]
, 2022 Mental disorders are observed in neuromuscular diseases, especially now that patients are living longer. Psychiatric symptoms may be severe and psychopharmacological treatments may be required. However, very little is known about pharmacotherapy in these
Brusa, C. +8 more
core +1 more source
British Journal of Clinical Pharmacology, EarlyView.With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić +4 more
wiley +1 more source
Clinical Pharmacology &Therapeutics, EarlyView.Several regulatory initiatives have been made to clarify the acceptability and requirements of real‐world data and real‐world evidence (RWD/E) for the benefit/risk assessment of new medical products in Japan. The objectives of this review were to characterize the use of RWD/E in regulatory applications of new medical products and to describe the ...
Suguru Okami +2 more
wiley +1 more source
Differentiating lower motor neuron syndromes [PDF]
, 2017 Lower motor neuron (LMN) syndromes typically present with muscle wasting and weakness and may arise from pathology affecting the distal motor nerve up to the level of the anterior horn cell. A variety of hereditary causes are recognised, including spinal
Cornblath, DR +12 more
core
Epileptic Disorders, EarlyView.Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor +7 more
wiley +1 more source
Confirmation of Clinical Diagnosis in Requests for Prenatal Prediction of SMA Type I [PDF]
, 1993 The recent discovery of a major SMA-locus in the chromosomal region 5q makes it possible to carry out prenatal DNA studies in families in which a child with SMA type I has been born.
Buys, CHCM +7 more
core +3 more sources