Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions
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 +5 more
wiley +1 more source
State capacity and health system financing: a cross-country analysis. [PDF]
Mazumdar S +5 more
europepmc +1 more source
Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study
ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro +6 more
wiley +1 more source
Squeezing Tobacco Retail Density Between 2000 and 2020 an Analysis of an Australian Tobacco Sellers Register. [PDF]
Martin-Gall VA +4 more
europepmc +1 more source
Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon +5 more
wiley +1 more source
A Landscape Overview of Integrated Data Systems Funding and Staffing Models Across the U.S. [PDF]
Nelson AH +5 more
europepmc +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
Public hearing before Assembly Committee on State Government on Assembly concurrent resolution no. 67 : (proposing to amend the Constitution of the State of New Jersey to prohibit the Legislature from imposing a personal income tax): December 12, 1968 [PDF]
New Jersey. Legislature. General Assembly. Committee on State Government
core
Compulsory health insurance in the Central and Eastern European countries: the similarity and the difference with Social Health Insurance. [PDF]
Shishkin S.
europepmc +1 more source

