Results 161 to 170 of about 833,559 (317)

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

The development of mass spectrometry-based approaches for the diagnosis of hemoglobinopathies [PDF]

Hemoglobinopathies are disorders of the protein hemoglobin (Hb), one of the most common inherited disorders, and pose an increasing healthcare problem. Worldwide, approximately 200 million people have hemoglobinopathies (Hartwell et al.
Radi, Krisztina
core  

Octanoic Acid-Rich Enteral Nutrition Alleviates Sepsis-Associated Metabolic Disorders by Suppressing White Adipose Tissue Browning in Mice. [PDF]

Food Sci Nutr
Zheng C, Li X, Xing C, Cao C.
europepmc   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Optimized post-GWAS analysis identifies therapeutic targets for essential thrombocythemia and polycythemia vera. [PDF]

Commun Med (Lond)
Li X, An W, Wang X, Yin Z, Gao Y, Lan Y, Zhang L, Zhao B, Chang L, Ruan M, Zhang L, Zou Y, Yang W, Zhu X.   +13 more
europepmc   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

The relationship between appetite hormones and body mass index in children with intoxication type metabolic diseases. [PDF]

Orphanet J Rare Dis
Koç N, Konyalıgil DB, Özen Yeşil B, Kaldırım B, Tel Adıgüzel K, Kıreker Köylü O, Kasapkara ÇS, Fırat Oğuz E, Eren F, Esgi M, Ünal Uzun Ö, Gündüz M.   +11 more
europepmc   +1 more source

Human Pegivirus Encephalitis With Brain Detection and Response to Sofosbuvir Ledipasvir

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Human pegivirus (HPgV‐1) has been associated with severe encephalomyelitis in immunocompromised patients. Its neurological spectrum remains poorly defined. We report a slowly progressive encephalitis in a person living with well‐controlled HIV, characterized by white matter abnormalities and inflammatory cerebrospinal fluid (CSF). HPgV RNA was
Antoine Moulignier, Françoise Heran, Francis Lallemand, Pierre Bourdillon   +3 more
wiley   +1 more source

Integration of Serum Neurofilament Light Chain and Cortical Dysfunction Improves Diagnostic Accuracy in ALS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether integration of serum neurofilament light chain (NfL) and cortical dysfunction improves diagnostic accuracy in amyotrophic lateral sclerosis (ALS) when applied alongside the Gold Coast criteria (GCC). Methods In this prospective study, 148 participants with suspected ALS were recruited (101 ALS and 47 with ALS ...
Aicee Dawn Calma, Nathan Pavey, Yukiko Tsuji, Amirul Ab Ghapar, Mehdi A.J. van den Bos, Bronwen Orden, Grace Lee, Linda Mekhael, Julie Ryder, Cláudia Santos Silva, David McDonald, Fakhria Kakar, Con Yiannikas, Matthew C. Kiernan, David A. Brown, Parvathi Menon, Steve Vucic   +16 more
wiley   +1 more source

Epigenetic Evidence Implies Disturbed Proteostasis and Potentially Protein Aggregation in Suicidality. [PDF]

Biomolecules
Šmon J, Juković M, Kršanac M, Samardžija B, Videtič Paska A, Žerovnik E, Kouter K, Bradshaw NJ.   +7 more
europepmc   +1 more source