Results 161 to 170 of about 652,978 (305)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

A new minute ectosymbiotic harpacticoid copepod living on the sea cucumber Eupentacta fraudatrix in the East/Japan Sea. [PDF]

PeerJ, 2018
Yeom J, Nikitin MA, Ivanenko VN, Lee W.
europepmc   +1 more source

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

Marine pollution damage in Australia: implementing the Bunker Oil Convention 2001 and the Supplementary Fund Protocol 2003

, 2008
The grounding of the bulk carrier Pasha Bulker on Nobbys beach, Newcastle in June 2007 has again highlighted the risk from shipping posed to Australia’s extensive and environmentally fragile coastline. Whilst a pollution incident was averted in this case,
Forrest, Craig, Gaskell, Nicholas
core  

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen, Ya‐Ting Chang, Levinia Lim, Pai‐Yi Chiu, Jung‐Lung Hsu, SangYun Kim, Wataru Narita, Na Young Ryoo, Kyoko Suzuki, Nagaendran Kandiah, Sebastian Crutch, Ming‐Chyi Pai   +11 more
wiley   +1 more source

Historical δ15N records of Saccharina specimens from oligotrophic waters of Japan Sea (Hokkaido). [PDF]

PLoS One, 2017
Kuribayashi T, Abe T, Montani S.
europepmc   +1 more source

The Ascidians of the Japan Sea. III [PDF]

Publications of the Seto Marine Biological Laboratory, 1990
openaire   +3 more sources

Low Incidence of Relapses After Vaccination in Anti‐Aquaporin‐4 Antibody‐Positive NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Patients with neuromyelitis optica spectrum disorder (NMOSD) may experience increased signs and symptoms of their underlying disease when vaccinated against meningococcal disease before receiving complement component 5 inhibitor therapies. This retrospective analysis indicated an overall low relapse incidence (mean [range], 3.3% [0.7%–10.6 ...
Sean J. Pittock, Jin Nakahara, Becky Parks, Kerstin Allen, Sami Fam   +4 more
wiley   +1 more source

Statistical analysis of the association between El Niño and the biological carbon pump in the East Sea (Japan Sea). [PDF]

Sci Rep
Jang G, Hong S, Oh J, Kim YI, Kim M, Lee H.   +5 more
europepmc   +1 more source