Results 41 to 50 of about 11,410,717 (272)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Historical, Legal, Political and Humanitarian Aspects of Involvement O.N.U. in the Conflict in Ukraine

EIRP Proceedings, 2022
In the 21st century, non-governmental organizations play an increasingly important role in international relations, and their considerable advancement is crucial in solving many global problems, especially those specialized in environmental or human ...
Stefan Gheorghe
doaj  

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

Non-Governmental Organizations - Factors for Local Development

Transylvanian Review of Administrative Sciences, 2012
This article aims at creating a correlation between the non-governmental (non-profit sector) and local development in order to highlight the role that these entities play in this process.
Marton BALOGH
doaj   +2 more sources

Donors’ Participation the Health System: A Double-Edged Sword [PDF]

Rāhburdhā-yi Mudīriyyat dar Niẓām-i Salāmat
The presence of donors in health system, despite its positive results, can also have weaknesses that sometimes act as a double-edged sword in achieving health priorities. In some cases, the needs are considered by donors as unnecessarily the real ones in
khatere khanjankhani, seyede maryam najibi   +1 more
doaj  

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
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, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Non-governmental Organizations and Construction of Social Problems: An Ethnographic Study of Non-Governmental Organizations in Sardasht [PDF]

مسائل اجتماعی ایران
The emergence of non-governmental organizations in Sardasht is tied to the diversity and intensification of social problems. This research analyzes the experiences of Sardasht non-governmental organizations in the construction of social problems within ...
Omid Ghaderzadeh, Rahmat Foroughi
doaj  

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
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, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Subclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay, Cassandre Landes‐Château, Lydiane Mondot, Mikael Cohen, Margherita Popolo, Jérôme de Seze, Bertrand Bourre, Françoise Durand‐Dubief, Olivier Casez, Orhun H. Kantarci, Aksel Siva, Stephanie Baillif, Darin T. Okuda, Letizia Leocani   +13 more
wiley   +1 more source

Religious non-governmental organizations and philanthropy in Indonesia

Indonesian Journal of Islam and Muslim Societies, 2013
Religious non-governmental organizations (RNGOs) and philanthropic activities in Indonesia have a long history. They existed prior to the creation of the nation state. Social, political and economic changes in this country have influenced the development
Tuti Alawiyah
doaj   +1 more source