Results 131 to 140 of about 29,836 (296)

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

Genotype-Phenotype Relationship among 785 Unrelated White Women with Inherited Congenital Factor VII Deficiency: A Three-Center Database Study. [PDF]

J Clin Med, 2023
Halimeh S, Koch L, Kenet G, Kuta P, Rahmfeld T, Stoll M, Nowak-Göttl U.   +6 more
europepmc   +1 more source

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

Identifying the silent deficiency: Severe Factor XI deficiency in an asymptomatic patient with isolated prolonged activated partial thromboplastin time—A case report

SAGE Open Medical Case Reports
Assessing a patient with a suspected bleeding disorder is a complex aspect of hematology. Prolonged activated partial thromboplastin time often indicates a coagulation factor deficiency or inhibitor and warrants detailed evaluation. Factor XI deficiency,
Awni Alshurafa, Mahmoud Draidi, Feryal Ibrahim, Shehab F. Mohamed, Mohamed A. Yassin   +4 more
doaj   +1 more source

Factor VII Deficiency

Turkish Journal of Medical Sciences, 1997
Behzat ÖZKAN, Recep AKDAĞ
openaire   +1 more source

Cognitive Status in People With Epilepsy in the Republic of Guinea: A Prospective, Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective People with epilepsy (PWE) may experience cognitive deficits but fail to undergo formal evaluation. This study compares cognitive status between PWE and healthy controls in the West African Republic of Guinea. Methods A cross‐sectional, case–control study was conducted in sequential recruitment phases (July 2024–July 2025) at Ignace ...
Maya L. Mastick, Cheick O. Soumah, Malé Doré, Oumar Mara, Desiré Neldje, Fodé A. Cissé, Toure M. Lamine, Aminata Diallo, Seungwon Lee, Siddharth Satish, Alexander J. X. Chen, Alice Liu, Nomin Enkhtsetseg, Farrah J. Mateen, The Guinea Epilepsy Project   +14 more
wiley   +1 more source

Congenital factor VII deficiency: When to suspect?

Pediatric Hematology Oncology Journal, 2016
Ankit Ranjan, Sushma Malik, Poonam Wade, Purvi Kadakia   +3 more
doaj   +1 more source

Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency. [PDF]

Front Med (Lausanne), 2023
Alesci RS, Hecking C, Racké B, Janssen D, Dempfle CE.   +4 more
europepmc   +1 more source

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein, Maximilian Mönch, Meret Herdick, Frauke Stascheit, Sarah Hoffmann, Hannah Preßler, Philipp Mergenthaler, Carla Dusemund, Paolo Doksani, Haoqi Sun, Pushpa Narayanaswami, Andreas Meisel, Lea Gerischer, Sophie Lehnerer   +13 more
wiley   +1 more source

A rare case report of multiple intracranial aneurysms with factor VII deficiency

, 2018
Pankaj Gupta, Arvind Sharma, Jitendra Singh, Akanksha Tanwar   +3 more
openalex   +2 more sources