Transcutaneous Carbon Dioxide Measurement in Adult Patients with Neuromuscular Disorders: A quality Level Assessment [0.03%]
神经肌肉疾病成人患者的透皮二氧化碳测量：质量等级评估
Katrien De Braekeleer,Michel Toussaint
Katrien De Braekeleer
Background: Carbon dioxide tension (PCO2) monitoring during sleep, is crucial to identify respiratory failure in patients with neuromuscular disorders (NMD). Transcutaneous PCO2 monitoring is an available technique to mea...
Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations [0.03%]
具有隐性 anoctamin-5 突变的肌病的表型谱
José Vázquez,Claire Lefeuvre,Rosa Elena Escobar et al.
José Vázquez et al.
Background: Biallelic variants in Anoctamin 5 (ANO5) gene are causative of limb-girdle muscular dystrophy (LGMD) R12 anoctamin5-related, non-dysferlin Miyoshi-like distal myopathy (MMD3), and asymptomatic hyperCKemia. ...
Natural History of Type 1 Spinal Muscular Atrophy in a Series of Argentinian Children [0.03%]
阿根廷儿童1型脊髓肌萎缩症的自然史研究
V Aguerre,F De Castro,J Mozzoni et al.
V Aguerre et al.
Background: SMA1 natural history is characterized by early development of chronic respiratory failure. Respiratory interventions in type 1 SMA infants are subject to great practice variability. Nusinersen, has been recent...
Minimal Consequences of CMAH and DBA/2 Backgrounds on a FKRP Deficient Model [0.03%]
CMAH和DBA / 2背景对FKRP缺陷模型的最小影响
Camille Vaubourg,Evelyne Gicquel,Isabelle Richard et al.
Camille Vaubourg et al.
Background: Muscular dystrophies (MD) are a large group of genetic diseases characterized by a progressive loss of muscle. The Latent TGFβ Binding Protein 4 (LTBP4) in the DBA/2 background and the Cytidine Monophosphate-...
Use of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance [0.03%]
儿童医院费城婴儿神经肌肉疾病测试（CHOP INTEND）在X连锁肌管营养不良症中的应用：内容效度和心理测量性能
Tina Duong,Gale Harding,Sally Mannix et al.
Tina Duong et al.
X-linked myotubular myopathy (XLMTM) is a life-threatening, congenital myopathy characterized by extreme hypotonia, weakness, delayed motor milestones, and respiratory failure, often resulting in pediatric mortality. This study evaluated th...
Taking a Strohl Through History: Putting Strohl Back in Guillain-Barré-Strohl Syndrome [0.03%]
穿越历史的Strohl之旅：在吉兰-巴雷综合征中重新提出Strohl
Steven Bondi,Elizabeth Carroll,Jaydeep Bhatt
Steven Bondi
Guillain-Barré Syndrome is a popular eponym that comes from a 1916 paper by Drs. Guillain, Barré, and Strohl. These physicians described two soldiers in the French Sixth Army during World War I who developed acute progressive motor weakne...
Swallowing, Chewing and Speaking: Frequently Impaired in Oculopharyngeal Muscular Dystrophy [0.03%]
吞咽、咀嚼和言语：眼咽型肌肉营养不良中的常见缺陷
Rosemarie H M J M Kroon,Corinne G C Horlings,Bert J M de Swart et al.
Rosemarie H M J M Kroon et al.
Background: Oculopharyngeal muscular dystrophy (OPMD) is a late onset progressive neuromuscular disorder. Although dysphagia is a pivotal sign in OPMD it is still not completely understood. ...
Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome' [0.03%]
遗传性周围神经病变的靶向治疗：系统综述及迈向'treatabolome'的步骤
Matthew J Jennings,Angela Lochmüller,Antonio Atalaia et al.
Matthew J Jennings et al.
Background: Hereditary peripheral neuropathies are inherited disorders affecting the peripheral nervous system, including Charcot-Marie-Tooth disease, familial amyloid polyneuropathy and hereditary sensory and motor neuro...
Towards Central Nervous System Involvement in Adults with Hereditary Myopathies [0.03%]
遗传性肌病成人患者的中枢神经系统受累趋向研究
Jens Reimann,Cornelia Kornblum
Jens Reimann
There is increasing evidence of central nervous system involvement in numerous neuromuscular disorders primarily considered diseases of skeletal muscle. Our knowledge on cerebral affection in myopathies is expanding continuously due to a be...
Familial Oculo-Leptomeningeal Transthyretin Amyloidosis Caused by Leu55Arg Mutation [0.03%]
由Leu55Arg突变引起的家族性眼-软脑膜甲状腺素转运蛋白样淀粉样变性疾病
Felix Kleefeld,Fabian Knebel,Dennis Eurich et al.
Felix Kleefeld et al.
Hereditary transthyretin amyloidosis (hATTR amyloidosis) is a multisystemic disease usually presenting in a mixed neurological and cardiological phenotype. We present a case of hATTR amyloidosis associated with Leu55Arg mutation causing a f...