Results 241 to 250 of about 18,495,960 (408)

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini, Rosario Vasta, Alberto Brusati, Francesco Scheveger, Silvia Peverelli, Alessio Maranzano, Alberto Doretti, Francesco Gentile, Eleonora Colombo, Maura Brunetti, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Davide Gentilini, Stefano Messina, Federico Verde, Claudia Morelli, John E. Landers, Bryan J. Traynor, Adriano Chiò, Vincenzo Silani, Andrea Calvo, Antonia Ratti, Nicola Ticozzi   +24 more
wiley   +1 more source

Direct and indirect effects of smoking during pregnancy on child development: The Japan Environment and Children's Study. [PDF]

Sci Rep
Tatsuta N, Nakai K, Sekiyama M, Taniguchi Y, Iwai-Shimada M, Takagi M, Kobayashi Y, Isobe T, Nakayama SF, Yamazaki S, Japan Environment and Children’s Study Group.   +10 more
europepmc   +1 more source

Indicators of Child Health and Welfare: Development of the DIPOV Index. By Leonard S. Kogan and Shirley Jenkins. New York: Columbia University Press, 1974. 82 pp. $15.00 [PDF]

, 1975

openalex   +1 more source

Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano, Megan A. Iammarino, Natalie F. Reash, Linda P. Lowes, Lindsay Pietruszewski, Kathleen Adderley, Lauren Humphrey, Audrey B. Knight, Christopher L. Steiner, Melissa A. Smith, Zarife Sahenk, Anne M. Connolly, Momen Almomen, Eleonora S. D'Ambrosio, Nathan Peck, Allison Peck   +15 more
wiley   +1 more source

Correction: Successful rituximab treatment for severe rapidly progressive interstitial lung disease with anti-MDA5 antibody-positive juvenile dermatomyositis: a case report and literature review

Pediatric Rheumatology Online Journal, 2022
Kentaro Nishi, Masao Ogura, Naotaka Tamai, Masafumi Gima, Kentaro Ide, Goro Koinuma, Koichi Kamei, Shuichi Ito   +7 more
doaj   +1 more source

Nurturing care as a critical buffer against climate change impacts on child development. [PDF]

PLOS Glob Public Health
Cuartas J, Vergunst F.
europepmc   +1 more source

The impact of postpartum post-traumatic stress disorder symptoms on child development: a population-based, 2-year follow-up study

Psychological Medicine, 2016
S. Garthus‐Niegel, S. Ayers, J. Martini, T. Soest, M. Eberhard-Gran   +4 more
semanticscholar   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Bahir Dar Child Development Cross-Sectional Study, Ethiopia: study protocol. [PDF]

BMJ Paediatr Open
Jensen SKG, Yibeltal K, North K, Workneh F, Teklehaimanot A, Abate BH, Fasil N, Melka TL, Chin TI, Folger LV, Roy Paladhi U, Van Dyk F, Thomason ME, Grant PE, Inder T, Worku A, Berhane Y, Lee AC.   +17 more
europepmc   +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