Results 161 to 170 of about 207,733 (353)

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa de Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann   +47 more
wiley   +1 more source

Genetic counseling follow-up - a retrospective study with a quantitative approach [PDF]

, 1999
João Monteiro de Pina Neto, Eucia Beatriz Lopes Petean   +1 more
openalex   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Bibliometric analysis of genetic counseling publications in Asia: Insights and implications

Genetics in Medicine Open
Purpose: Investigation of genetic counseling-related published papers offers a historical assessment of the cumulative scientific knowledge produced by members of the profession and can be the basis for future practice, training, and research. This paper
Peter James B. Abad, Ma-Am Joy R. Tumulak, Sook-Yee Yoon, Mercy Y. Laurino, Qurratulain Hasan   +4 more
doaj  

Cervical Spinal Cord Magnetization Transfer Ratio and Its Relationship With Clinical Outcomes in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The cervical spinal cord (cSC) is highly relevant to clinical dysfunction in multiple sclerosis (MS) but remains understudied using quantitative magnetic resonance imaging (MRI). We assessed magnetization transfer ratio (MTR), a semi‐quantitative MRI measure sensitive to MS‐related tissue microstructural changes, in the cSC and its ...
Lisa Eunyoung Lee, Julien Cohen‐Adad, Irene M. Vavasour, Melanie Guenette, Katherine Sawicka, Neda Rashidi‐Ranjbar, Nathan Churchill, Akash Chopra, Adelia Adelia, Pierre‐Louis Benveniste, Anthony Traboulsee, Nathalie Arbour, Fabrizio Giuliani, Larry D. Lynd, Scott B. Patten, Alexandre Prat, Alice Schabas, Penelope Smyth, Roger Tam, Yunyan Zhang, Simon J. Graham, Mojgan Hodaie, Anthony Feinstein, Shannon Kolind, Tom A. Schweizer, Jiwon Oh, CanProCo Study Group   +26 more
wiley   +1 more source

Assisting Families through Genetic Counseling

, 1983
Adrianne K. Hamilton, Dorinda N. Noble
openalex   +1 more source

Familial risks and genetic counselling for common psychiatric disorders [PDF]

, 1999
Jane Scourfield, Peter McGuffin
openalex   +1 more source

Molecular Screening of SCN1A‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang, Yang‐Yang Wang, Lin‐Yan Hu, Xiu‐Yu Shi, Wen He, Dan Sun, Baoguang Li, Xiaoming Liu, Sanqing Xu, Lijun Du, Chunhui Tang, Li‐Ping Zou   +11 more
wiley   +1 more source

Duchenne muscular dystrophy and idiopathic hyperCKemia in a family causing confusion in genetic counselling [PDF]

, 1996
K. Bushby, Judith Goodship, Daisy Haggerty, A. Heald, Timothy J. Walls   +4 more
openalex   +1 more source

A Novel C19orf47‐AKT2 Chimeric RNA Generated by Cis‐Splicing of Adjacent Genes Is Associated With Glioblastoma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Malignant gliomas pose significant therapeutic challenges. This study aimed to identify and characterize a novel chimeric RNA in glioma and assess its clinical and functional significance for precision treatment. Methods The C19orf47‐AKT2 chimeric RNAs were identified through RNA sequencing and validated by polymerase chain reaction.
Zihan Wang, Bowen Ni, Kezhi Wu, Qi Zhang, Jinglin Guo, Runwei Yang, Ziyu Wang, Guozhong Yi, Guanglong Huang, Minyi He, Yimin Xu, Yawei Liu   +11 more
wiley   +1 more source