Results 41 to 50 of about 89,530 (308)

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

Іnheritance of money and right on deposit in a financial institution

Проблеми Законності, 2016
Features of inheritance of money and the right on deposit in a financial institution, on the one hand, related to those functions that they perform as the objects of inheritance law in civil circulation, on the other hand, with their specific legal ...
А. М. Ісаєв
doaj   +1 more source

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

Conceptual and Ideological Changes in the Czechoslovak Inheritance Law After 1948 in the Broader Context of Changes in Property and Family Law

Krakowskie Studia z Historii Państwa i Prawa
This article focuses on the development of Czechoslovak inheritance law in the period after the end of the World War II, with an emphasis on the years from 1945 to 1951.
Jindřich Psutka, Denisa Kotroušová
doaj   +1 more source

Основні проблеми сучасного спадкового права [PDF]

, 2016
Було проаналізовано, останні напрацювання інститутів спадкування. Юридичні конструкції спадкового права стали предметом активних досліджень, дискусій в галузі цивілістичної науки і практики, що сприяє вирішенню виникаючих проблем правозастосування, що
Honcharova, Alina Viacheslavivna, Ulviyye, Aydin, Гончарова, Алина Вячеславовна, Гончарова, Аліна В`ячеславівна   +3 more
core  

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

PRZYJĘCIE SPADKU Z DOBRODZIEJSTWEM INWENTARZA. OD PRAWA JUSTYNIAŃSKIEGO DO KODEKSU CYWILNEGO

Zeszyty Prawnicze, 2016
Accepting Inheritance with the Benefit of the Inventory. From Justinian Law to the Civil Code Summary The Justinian model, limiting the heir’s liability for inherited debt by means of benefit of the inventory, found a lasting place in the later ...
Renata Świrgoń-Skok
doaj   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

The need to harmonize the laws of the European Union regarding the succesion law

Agora International Journal of Economical Sciences, 2017
The inheritance implies a balance between the will of the one who plans the anticipated transmission of his assets and the ones waiting for it. The creditors are equally put into equation in the transmission of the succession. The relations between these
Laura-Dumitrana Rath-BoÅŸca, Loredana Mirela Barmoș, Ioana Andreea Mihale   +2 more
doaj