PMC Links for Nucleotide (Select 223717990) - PMC

Select item 70571151.

A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease

Anna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, Theodoros Georgiou, Lluisa Vilageliu, Marina Moraitou, Helen Michelakakis, Chrystalla Prokopiou, Anthi Drousiotou

Mol Genet Genomic Med. 2020 Mar; 8(3): e1090. Published online 2020 Jan 14. doi: 10.1002/mgg3.1090

PMCID:: PMC7057115

Abstract Article PDF–622K

Select item 58236732.

Improvement of life quality measured by Lansky Score after enzymatic replacement therapy in children with Gaucher disease type 1

Magdalena Cerón‐Rodríguez, Edgar Barajas‐Colón, Lyuva Ramírez‐Devars, Claudia Gutiérrez‐Camacho, Juan L. Salgado‐Loza

Mol Genet Genomic Med. 2018 Jan; 6(1): 27–34. Published online 2017 Oct 25. doi: 10.1002/mgg3.339

PMCID:: PMC5823673

Abstract Article PDF–829K

Select item 57873913.

Type 2 Gaucher Disease in an Infant Despite a Normal Maternal Glucocerebrosidase gene

Ermias Hagege, Richard J Grey, Grisel Lopez, Tamanna Roshan Lal, Ellen Sidransky, Nahid Tayebi

Am J Med Genet A. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Am J Med Genet A. 2017 Dec; 173(12): 3211–3215. Published online 2017 Nov 1. doi: 10.1002/ajmg.a.38487

PMCID:: PMC5787391

Abstract Article PDF–421K

Select item 51933804.

GBA Variants Influence Motor and Non-Motor Features of Parkinson’s Disease

Silvia Jesús, Ismael Huertas, Inmaculada Bernal-Bernal, Marta Bonilla-Toribio, María Teresa Cáceres-Redondo, Laura Vargas-González, Myriam Gómez-Llamas, Fátima Carrillo, Enrique Calderón, Manuel Carballo, Pilar Gómez-Garre, Pablo Mir

PLoS One. 2016; 11(12): e0167749. Published online 2016 Dec 28. doi: 10.1371/journal.pone.0167749

PMCID:: PMC5193380

Abstract Article PDF–1.8M

Select item 39277015.

Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson’s disease

Karen E. Murphy, Amanda M. Gysbers, Sarah K. Abbott, Nahid Tayebi, Woojin S. Kim, Ellen Sidransky, Antony Cooper, Brett Garner, Glenda M. Halliday

Brain. 2014 Mar; 137(3): 834–848. Published online 2014 Jan 28. doi: 10.1093/brain/awt367

PMCID:: PMC3927701

Abstract Article PDF–599K

Select item 35222076.

A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders

Hamid Saranjam, Sameer S Chopra, Harvey Levy, Barbara K Stubblefield, Emerson Maniwang, Ian J Cohen, Hagit Baris, Ellen Sidransky, Nahid Tayebi

Eur J Hum Genet. 2013 Jan; 21(1): 115–117. Published online 2012 Jun 20. doi: 10.1038/ejhg.2012.105

PMCID:: PMC3522207

Abstract Article PDF–344K

Select item 33678757.

Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis

Sarah M. Lo, Murim Choi, Jun Liu, Dhanpat Jain, Rolf G. Boot, Wouter W. Kallemeijn, Johannes M. F. G. Aerts, Farzana Pashankar, Gary M. Kupfer, Shrikant Mane, Richard P. Lifton, Pramod K. Mistry

Blood. 2012 May 17; 119(20): 4731–4740. Prepublished online 2012 Apr 4. doi: 10.1182/blood-2011-10-386862

Correction in:: Blood. 2014 Oct 9; 124(15): 2469.

PMCID:: PMC3367875

Abstract Article

Select item 32867628.

Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups

Ju-Young Lee, Beom Hee Lee, Gu-Hwan Kim, Chang-Woo Jung, Jin Lee, Jin-Ho Choi, Han-Wook Yoo

Korean J Pediatr. 2012 Feb; 55(2): 48–53. Published online 2012 Feb 14. doi: 10.3345/kjp.2012.55.2.48

PMCID:: PMC3286762

Abstract Article PDF–638K

Select item 29707269.

Experience with Carrier Screening and Prenatal Diagnosis for Sixteen Ashkenazi Jewish Genetic Diseases

Stuart A. Scott, Lisa Edelmann, Liu Liu, Minjie Luo, Robert J. Desnick, Ruth Kornreich

Hum Mutat. Author manuscript; available in PMC 2011 Nov 1.

Published in final edited form as: Hum Mutat. 2010 Nov; 31(11): 1240–1250. doi: 10.1002/humu.21327

PMCID:: PMC2970726

Abstract Article PDF–358K

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