Results 131 to 140 of about 1,344,750 (267)

Natural history of coronary aneurysms associated with Noonan's syndrome. [PDF]

J Cardiol Cases
Cossettini FJ, Lorenzatti D, Filtz A, Yametti FC, Cedeño Serna JC, Ragupathi S, Gaznabi S, Sutton NJ, Levsky JM, Slipczuk L.   +9 more
europepmc   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

Directional Analysis of Residual RPE Area Loss in the Natural History of Choroideremia. [PDF]

Invest Ophthalmol Vis Sci
Chujo S, Abbasgholizadeh R, Alhelaly M, Nittala MG, Quarta A, Chung YC, Kwak H, Soylu C, Rattu R, Huang J, Corradetti G, Velaga S, Forte P, Uji A, Sadda SR.   +14 more
europepmc   +1 more source

Comparative Effectiveness and Safety of Inebilizumab Versus Rituximab in AQP4‐IgG‐Positive NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rituximab (anti‐CD20, RTX) and inebilizumab (anti‐CD19, INE) represent B‐cell‐depleting therapies used for aquaporin‐4 antibody‐positive (AQP4‐IgG+) neuromyelitis optica spectrum disorder (NMOSD); however, direct comparative evidence remains limited.
Jie Lin, Binbin Xue, Dewei Xie, Jia Li, Juyuan Pan, Lanbing Zhu, Qiaowen Tong, Jing Lin, Ruofan Zhu, Xu Zhang, Junhui Xia, Xiang Li   +11 more
wiley   +1 more source

Adrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohort. [PDF]

J Neurol Neurosurg Psychiatry
Benzoni C, Moscatelli M, Lanteri P, Pensato V, Calò C, Allievi S, Gellera C, Ardissone A, Moroni I, Fenu S, Cavalca E, Pareyson D, Salsano E.   +12 more
europepmc   +1 more source

MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru, Akansha Chandrasekar, Kyla Blasingame, Jonathan Rosen, Jesse M. Levine, Karla Salazar, Madhuri Chilakapati, Rod Foroozan, Victoria Hardwick, Jonathan M. Yarimi, Nikita Shukla, Timothy E. Lotze, Kristen S. Fisher, Alexander J. Sandweiss   +13 more
wiley   +1 more source

Natural history of large adrenal tumors. [PDF]

Front Endocrinol (Lausanne)
Macech M, Stępień M, Podgórska J, Toutounchi S, Koperski Ł, Barankiewicz J, Bobrowicz M, Kondracka A, Ambroziak U.   +8 more
europepmc   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

Genomic evolution and natural history of myeloproliferative neoplasms on therapy. [PDF]

Cancer Discov
Leongamornlert D, Lee J, Kamizela AE, To K, Myers D, Williams N, Nyamondo K, Wang X, Guo J, Dissanayake RK, Price J, Durrani AJ, Lambert J, Spencer Chapman M, Pimanda JE, Baxter EJ, Green AR, Godfrey AL, Nangalia J.   +18 more
europepmc   +1 more source

The Cambridge natural history

, 1895
S. F. Harmer, A. E. Shipley
openaire   +4 more sources