Ancestral Origin of the First Indian Families with Myotonic Dystrophy Type 2 [0.03%]
印度首批不死症性肌营养不良Ⅱ型患者的家族起源研究
Manon Damen,Mascha Schijvenaars,Marlies Schimmel-Naber et al.
Manon Damen et al.
Background: Myotonic dystrophy type 2 (DM2) is caused by a CCTG repeat expansion in intron 1 of the CCHC-Type Zinc Finger Nucleic Acid Binding Protein (CNBP) gene. Previous studies indicated that this repeat expansion ori...
Hereditary Transthyretin Amyloidosis- Clinical and Genetic Characteristics of a Multiracial South-East Asian Cohort in Singapore [0.03%]
遗传性转甲状腺素蛋白淀粉样变性在新加坡多种族东南亚群体中的临床及基因特征
Zhiyong Chen,Jasmine S Koh,Monica Saini et al.
Zhiyong Chen et al.
Background and aims: Studies of hereditary transthyretin amyloidosis (ATTRv amyloidosis) in South-East Asia are underrepresented in the literature. We report the unique phenotypic and genetic characteristics of this disor...
Profiling Serum Antibodies Against Muscle Antigens in Facioscapulohumeral Muscular Dystrophy Finds No Disease-Specific Autoantibodies [0.03%]
血清肌肉抗原抗体谱分析发现 facio‐scapulo‐humeral 肌营养不良症中无疾病特异性自身抗体
Anna Greco,Kirsten R Straasheijm,Karlien Mul et al.
Anna Greco et al.
Background: FSHD is caused by specific genetic mutations resulting in activation of the Double Homeobox 4 gene (DUX4). DUX4 targets hundreds of downstream genes eventually leading to muscle atrophy, oxidative stress, abno...
Non-Motor Symptoms of Amyotrophic Lateral Sclerosis: A Multi-Faceted Disorder [0.03%]
肌萎缩侧索硬化非运动症状：一种多 facette 的疾病
Yuval Nash,Michal Sitty
Yuval Nash
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive degeneration of motor pathways. A growing body of evidence from recent years suggests that ALS results in a wide range of non-motor sympto...
Subcutaneous Immunoglobulin Therapy with IgPro20 in Patients with Stiff Person Syndrome and Primary Immunodeficiency Disease [0.03%]
stiff person综合征和原发性免疫缺陷病患者的IgPro20亚 below免疫球蛋白疗法
Olivia L Francis,Avni Joshi,Ty Prince et al.
Olivia L Francis et al.
Stiff Person Syndrome (SPS), a rare autoimmune neurologic disorder characterized by fluctuating muscle spasms and rigidity, is mediated by autoantibodies to glutamic acid decarboxylase (GAD) antibodies. Symptoms of SPS have been shown to im...
Oral and Swallowing Abilities Tool (OrSAT) for Type 1 SMA Patients: Development of a New Module [0.03%]
一型脊髓性肌萎缩症患者的口腔和吞咽能力评估工具（OrSAT）的新模块开发
Beatrice Berti,Lavinia Fanelli,Roberto de Sanctis et al.
Beatrice Berti et al.
We describe the development of a new tool specifically designed to record oral abilities, swallowing and, more generally, feeding in young type 1 SMA patients, to be used during the first 24 months of life.The tool is composed by a checklis...
Gisèle Bonne
Gisèle Bonne
Giulia Norcia,Simona Lucibello,Giorgia Coratti et al.
Giulia Norcia et al.
Background: Over the last few years there has been increasing attention to detect early signs of impairment in young Duchenne muscular dystrophy boys but less has been reported on whether the delay may also affect the ver...
A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method [0.03%]
加拿大成人脊髓性肌肉萎缩症结局测量工具包：使用改进的德尔菲法进行的全国共识结果
Jeremy Slayter,Victoria Hodgkinson,Josh Lounsberry et al.
Jeremy Slayter et al.
Background: Spinal Muscular Atrophy (SMA) is a rare disease that affects 1 in 11 000 live births. Recent developments in SMA treatments have included new disease-modifying therapies that require high quality data to infor...
Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort [0.03%]
印度人群中DMD基因致病突变等位基因频率的比较分析
Divya Nagabushana,Kiran Polavarapu,Mainak Bardhan et al.
Divya Nagabushana et al.
Background: Duchenne muscular dystrophy (DMD) is an X-linked disorder caused due to large deletions, duplications,and small pathogenic variants. This article compares the carrier frequency of different pathogenic variants...