Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies [0.03%]
COL6A3 c.7447A>G p.(Lys2483Glu)变异相关的临床和分子谱系：在VI型胶原相关肌病中的作用探讨
Rocío N Villar-Quiles,Sandra Donkervoort,Alix de Becdelièvre et al.
Rocío N Villar-Quiles et al.
Background: Dominant and recessive autosomal pathogenic variants in the three major genes (COL6A1-A2-A3) encoding the extracellular matrix protein collagen VI underlie a group of myopathies ranging from early-onset severe...
Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada [0.03%]
加拿大脊髓性肌萎缩症(SMA)患者的疾病负担及其对看护者的影响
H J McMillan,B Gerber,T Cowling et al.
H J McMillan et al.
Background: Spinal muscular atrophy (SMA) is a rare neurodegenerative disease characterized by progressive muscular weakness, which occurs in one in 6,000 to 10,000 live births. The burden of SMA on Canadian patients and ...
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome' [0.03%]
糖原贮积病和脂代谢异常相关的代谢性肌病的靶向治疗：系统综述及“治疗组学谱”的展望
A Manta,S Spendiff,H Lochmüller et al.
A Manta et al.
Background: Metabolic myopathies are a heterogenous group of muscle diseases typically characterized by exercise intolerance, myalgia and progressive muscle weakness. Effective treatments for some of these diseases are av...
Miriam Hiebeler,Angela Abicht,Peter Reilich et al.
Miriam Hiebeler et al.
Background: Spinal muscular atrophy is an autosomal recessive neuromuscular disease leading to ongoing degeneration of anterior horn cells in the spinal cord. Nusinersen is the first approved treatment for the condition, ...
Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome' [0.03%]
染病治疗系统评价：“治”览素贡献
Antonio Atalaia,Rabah Ben Yaou,Karim Wahbi et al.
Antonio Atalaia et al.
Background: Variants in the LMNA gene, encoding lamins A/C, are responsible for a growing number of diseases, all of which complying with the definition of rare diseases. LMNA-related disorders have a varied phenotypic ex...
Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients [0.03%]
肌营养不良症1型(DM1)患者皮肤成纤维细胞中GSK3β靶蛋白的失调
Valentina Grande,Denisa Hathazi,Emily O&#x;Connor et al.
Valentina Grande et al.
Myotonic dystrophy type 1 (DM1) is the most common monogenetic muscular disorder of adulthood. This multisystemic disease is caused by CTG repeat expansion in the 3'-untranslated region of the DM1 protein kinase gene called DMPK. DMPK encod...
Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era [0.03%]
改善护理和赋权成人脊髓性肌萎缩症患者行动呼吁：治疗新时代的到来
Maggie C Walter,Claudia Chiriboga,Tina Duong et al.
Maggie C Walter et al.
While Spinal Muscular Atrophy (SMA) has historically been managed with supportive measures, the emergence of innovative medicines has given those living with SMA hope for improved quality of life and has revolutionized care. Despite these a...
The Role of Nutrition and Physical Activity as Trigger Factors of Paralytic Attacks in Primary Periodic Paralysis [0.03%]
营养和身体活动在原发性周期性瘫痪发病中的作用
Natasha Lervaag Welland,Helge Hæstad,Hanne Ludt Fossmo et al.
Natasha Lervaag Welland et al.
Background: Primary periodic paralysis (PPP) are rare inherited neuromuscular disorders including Hypokalemic periodic paralysis (HypoPP), Hyperkalemic periodic paralysis (HyperPP) and Andersen-Tawil syndrome (ATS) charac...
Plasma Creatinine Level Does Not Predict Respiratory Function in Amyotrophic Lateral Sclerosis [0.03%]
血清肌酐水平不能预测肌萎缩侧索硬化患者的呼吸功能
João Morgadinho,Ana Catarina Pronto-Laborinho,Vasco A Conceição et al.
João Morgadinho et al.
In amyotrophic lateral sclerosis (ALS) lower plasma creatinine level has been associated with shorter survival and faster functional decline. It has not been clear if creatinine is associated with respiratory outcome. We analyzed retrospect...
Progression or Not - A Small Natural History Study of Genetical Confirmed Congenital Myopathies [0.03%]
进展或不进展-遗传学确诊的先天性肌病自然史的初步研究
Ulla Werlauff,Pernille Diemer Hansen,Nanna Witting et al.
Ulla Werlauff et al.
Background: Clinical characteristics of patients with congenital myopathies (CM) are well known but there is a lack of knowledge about the natural history and course of disease of the different genetic subtypes. In 2010 w...