Results 121 to 130 of about 45,763 (247)

Clinical Commentaries on Certain Rare Forms of Disease Connected with Syphilis [PDF]

J. Ciaran Hutchinson
openalex   +1 more source

Hemoglobin CE Disease: A Rare Hemoglobinopathy Detected By Capillary Isoelectric Focusing Techniques (CIE) [PDF]

, 1999
R. P. Warrier, A. Nocerino, James M. Hempe, Randall Craver   +3 more
openalex   +1 more source

Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.
Julie A. Parsons, Natalie Land, Melissa Culhane Maravic, Claire Cagle, Amal Jamaleddine, Hemal Shah, Thomas Brown, Christabella Cherubino, Mouhamed Gueye   +8 more
wiley   +1 more source

Digital Activity Markers in Chronic Inflammatory Demyelinating Polyneuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the utility of smartwatch and smartphone‐based activity metrics for assessing disease severity and quality of life in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). Methods In the electronic monitoring of disease activity in patients with CIDP (EMDA‐CIDP) trial, we performed a prospective ...
Lars Masanneck, Jan Voth, Noëmi Gmahl, Konstantin Jendretzky, Niklas Huntemann, Noah M. Werner, Linea Schmidt, Menekse Oeztuerk, Paula Quint, Christina B. Schroeter, Hans Peter Hartung, Thomas Skripuletz, Gerd Meyer zu Hörste, Tobias Ruck, Sven G. Meuth, Marc Pawlitzki   +15 more
wiley   +1 more source

Genetic history and biological adaptive landscape of the Tujia people inferred from shared haplotypes and alleles

Human Genomics
Background High-quality genomic datasets from under-representative populations are essential for population genetic analysis and medical relevance. Although the Tujia are the most populous ethnic minority in southwestern China, previous genetic studies ...
Jing Chen, Mengge Wang, Shuhan Duan, Qingxin Yang, Yan Liu, Mengyang Zhao, Qiuxia Sun, Xiangping Li, Yuntao Sun, Haoran Su, Zhiyong Wang, Yuguo Huang, Jie Zhong, Yuhang Feng, Xiaomeng Zhang, Guanglin He, Jiangwei Yan   +16 more
doaj   +1 more source

Further Rare Diseases and Debatable Subjects

, 1950
G. D. Kersley
openalex   +1 more source

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Targeting Rare Populations of Murine Antigen-Specific T Lymphocytes by Retroviral Transduction for Potential Application in Gene Therapy for Autoimmune Disease [PDF]

, 2000
Gina L. Costa, Jacqueline Benson, Christine M. Seroogy, Philip Achacoso, C. Garrison Fathman, Garry P. Nolan   +5 more
openalex   +1 more source

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang, Kang‐Yang Jih, Cheng‐Tsung Hsiao, Fu‐Pang Chang, Justus Chunyu Chen, Yi‐Chu Liao, Yih‐Ru Wu, Yi‐Chung Lee   +7 more
wiley   +1 more source

Population genetic admixture and evolutionary history in the Shandong Peninsula inferred from integrative modern and ancient genomic resources

BMC Genomics
Background Ancient northern East Asians (ANEA) from the Yellow River region, who pioneered millet cultivation, play a crucial role in understanding the origins of ethnolinguistically diverse populations in modern China and the entire landscape of deep ...
Haoran Su, Mengge Wang, Xiangping Li, Shuhan Duan, Qiuxia Sun, Yuntao Sun, Zhiyong Wang, Qingxin Yang, Yuguo Huang, Jie Zhong, Jing Chen, Xiucheng Jiang, Jinyue Ma, Ting Yang, Yunhui Liu, Lintao Luo, Yan Liu, Junbao Yang, Gang Chen, Chao Liu, Yan Cai, Guanglin He   +21 more
doaj   +1 more source