Results 171 to 180 of about 886,679 (343)

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

Hosting eSports events: the quality-response-behavioural intentions relationship of eSports fans. [PDF]

Front Sports Act Living
Cerqueira L, Ribeiro T, Cunha de Almeida VM.   +2 more
europepmc   +1 more source

How do customers react to preferential treatment? An affective events theory and time-lagged survey

Qurat Ul Ain, Weng Marc Lim, Shahid Rasool, Muhammad Zeshan   +3 more
openalex   +1 more source

Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study investigated myostatin levels in SMA patients receiving disease‐modifying therapies (DMTs) to understand their relationship with treatment duration and functional status. Methods Our study includes both cross‐sectional and longitudinal analyses of myostatin levels in treated SMA patients.
Fiorella Piemonte, Sara Petrillo, Anna Capasso, Giorgia Coratti, Adele D'Amico, Michela Catteruccia, Maria Carmela Pera, Concetta Palermo, Marika Pane, Emanuela Abiusi, Gianpaolo Cicala, Marianna Villa, Chiara Bravetti, Chiara Arpaia, Agnese Novelli, Salvatore Falqui, Stefania Fiori, Giulia Napoli, Silvia Baroni, Francesco Danilo Tiziano, Enrico Bertini, Giacomo Comi, Stefania Corti, Eugenio Mercuri   +23 more
wiley   +1 more source

Nuclei‐Specific Amygdala Enlargement Is Linked to Psychiatric Comorbidities in Drug‐Resistant Focal Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amygdala enlargement has been the subject of controversial studies regarding its significance in terms of pathogenicity both in epilepsy and in psychiatric comorbidities such as anxiety, depression, and post‐traumatic stress disorder.
Hélène Mourre, Julia Makhalova, Lisa Soncin, Elodie Garnier, Hugo Dary, Arnaud Le Troter, Roy A. M. Haast, Benoit Testud, Marie Arthuis, Samuel Medina Villalon, Stanislas Lagarde, Francesca Pizzo, Christian Bénar, Jean‐Philippe Ranjeva, Maxime Guye, Fabrice Bartolomei   +15 more
wiley   +1 more source

Social Cognition in Suicidal Behavior in Psychosis: A Systematic Review. [PDF]

Behav Sci (Basel)
Carcedo Herrero M, Sastre-Buades A, Barrigón ML.   +2 more
europepmc   +1 more source

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

A study of the effect of mascot attractiveness on attitudes toward sporting events. [PDF]

Sci Rep
Liang A, Sun L, Wang H.
europepmc   +1 more source

Military Service Roles and ALS Among Veterans: A Matched Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT While military service is an established risk factor for amyotrophic lateral sclerosis (ALS), it remains unclear whether this association is linked to combat. We conducted a matched case–control study comparing 191 ALS patients who were veterans of the Israeli Defense Forces (IDF) with known military service type and 1910 matched controls. The
Asaf Honig, Roy Dayan, Amir Knaani, Hagai Levine, Marc Gotkine   +4 more
wiley   +1 more source

How digital leadership adds affective commitment of new generation employees: an affective events perspective. [PDF]

Front Psychol
Li H, Li F, Ma J, Liu B.
europepmc   +1 more source