PMC Links for Nucleotide (Select 1650801318) - PMC

Select item 69587751.

Assessment of cellular cobalamin metabolism in Gaucher disease

Suelen Porto Basgalupp, Marina Siebert, Charles Ferreira, Sidney Behringer, Ute Spiekerkoetter, Luciana Hannibal, Ida Vanessa Doederlein Schwartz

BMC Med Genet. 2020; 21: 12. Published online 2020 Jan 13. doi: 10.1186/s12881-020-0947-z

PMCID:: PMC6958775

Abstract Article PDF–780K

Select item 66196042.

Progranulin deficiency leads to reduced glucocerebrosidase activity

Xiaolai Zhou, Daniel H. Paushter, Mitchell D. Pagan, Dongsung Kim, Mariela Nunez Santos, Raquel L. Lieberman, Herman S. Overkleeft, Ying Sun, Marcus B. Smolka, Fenghua Hu

PLoS One. 2019; 14(7): e0212382. Published online 2019 Jul 10. doi: 10.1371/journal.pone.0212382

PMCID:: PMC6619604

Abstract Article PDF–2.5M

Select item 63767523.

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M Girisha, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi, Raju Shah, Sheela Nampoothiri, Sumita Danda, Chaitanya Datar, Seema Kapoor, Seema Bhatwadekar, Frenny Sheth

BMC Med Genet. 2019; 20: 31. Published online 2019 Feb 14. doi: 10.1186/s12881-019-0759-1

PMCID:: PMC6376752

Abstract Article PDF–2.9M

Select item 2968424.

High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease.

J Sorge, E Gross, C West, E Beutler

J Clin Invest. 1990 Oct; 86(4): 1137–1141. doi: 10.1172/JCI114818

PMCID:: PMC296842

Summary Page Browse PDF–1.0M

Select item 67210495.

The Missing Heritability of Sporadic Frontotemporal Dementia: New Insights from Rare Variants in Neurodegenerative Candidate Genes

Miriam Ciani, Cristian Bonvicini, Catia Scassellati, Matteo Carrara, Carlo Maj, Silvia Fostinelli, Giuliano Binetti, Roberta Ghidoni, Luisa Benussi

Int J Mol Sci. 2019 Aug; 20(16): 3903. Published online 2019 Aug 10. doi: 10.3390/ijms20163903

PMCID:: PMC6721049

Abstract Article PDF–258K

Select item 63486366.

Identification of sequence variants associated with severe microtia-astresia by targeted sequencing

Pu Wang, Yibei Wang, Xinmiao Fan, Yaping Liu, Yue Fan, Tao Liu, Chongjian Chen, Shuyang Zhang, Xiaowei Chen

BMC Med Genomics. 2019; 12: 28. Published online 2019 Jan 28. doi: 10.1186/s12920-019-0475-x

PMCID:: PMC6348636

Abstract Article PDF–2.6M

Select item 59631227.

Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson’s Disease

Marina V. Shulskaya, Anelya Kh. Alieva, Ivan N. Vlasov, Vladimir V. Zyrin, Ekaterina Yu. Fedotova, Natalia Yu. Abramycheva, Tatiana S. Usenko, Andrei F. Yakimovsky, Anton K. Emelyanov, Sofya N. Pchelina, Sergei N. Illarioshkin, Petr A. Slominsky, Maria I. Shadrina

Front Aging Neurosci. 2018; 10: 136. Published online 2018 May 15. doi: 10.3389/fnagi.2018.00136

PMCID:: PMC5963122

Abstract Article PDF–1.5M

Select item 45736528.

Splicing: is there an alternative contribution to Parkinson’s disease?

Valentina La Cognata, Velia D’Agata, Francesca Cavalcanti, Sebastiano Cavallaro

Neurogenetics. 2015; 16: 245–263. Published online 2015 May 16. doi: 10.1007/s10048-015-0449-x

PMCID:: PMC4573652

Abstract Article PDF–923K

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