Results 181 to 190 of about 2,267,167 (360)
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Annals of Clinical and Translational Neurology, EarlyView.Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao +34 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source
Peri-abortion contraception: a qualitative study of users' experiences [PDF]
, 2004 Usha Kumar +3 more
openalex +1 more source
Spinal Cord Abnormalities in Early Pediatric Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Spinal cord lesions and atrophy in the cervical region are common in adult multiple sclerosis (MS) and correlate with disability. Whether similar abnormalities occur in pediatric MS patients is largely unknown. Clinical and MRI evaluations were performed in 38 pediatric MS patients and 13 healthy controls (HC).
Monica Margoni +7 more
wiley +1 more source
Making Sense of Illness: The Experiences of Users of Complementary Medicine [PDF]
, 2005 Tina Cartwright, Rebecca Torr
openalex +1 more source
SOLUSI DESAIN APLIKASI BELAJAR MEMBACA ANAK USIA DINI TERHADAP KESESUAIAN KEBUTUHAN PENGGUNA MENGGUNAKAN UX JOURNEY [PDF]
Problems: This research aims to overcome the problem of formal and monotonous early childhood reading in their learning media by providing interesting and enjoyable learning experience through the use of gadgets, integrating modern technology with ...
Tahir, Muhammad Irfan Arifbillah
core
HPDL Variant Type Correlates With Clinical Disease Onset and Severity
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee +19 more
wiley +1 more source
Dysphagia and Mortality Risk in Individuals With Primary Progressive Apraxia of Speech
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Individuals with primary progressive apraxia of speech (PPAOS) often develop parkinsonism and dysphagia. To evaluate the clinical correlates and impact of dysphagia in this population, we compared enrollment visit data between individuals with (n = 12) versus individuals without (n = 44) dysphagia symptoms.
Gabriela Meade +8 more
wiley +1 more source