PMC Links for Books (Select 5369318) - PMC

Select item 88308081.

Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations

Keri Ramsey, Newell Belnap, Anna Bonfitto, Wayne Jepsen, Marcus Naymik, Meredith Sanchez‐Castillo, David W. Craig, Szabolcs Szelinger, Matthew J. Huentelman, Vinodh Narayanan, Sampath Rangasamy

Mol Genet Genomic Med. 2022 Feb; 10(2): e1857. Published online 2022 Jan 7. doi: 10.1002/mgg3.1857

PMCID:: PMC8830808

Article PDF–444K

Select item 85260152.

A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation

Bat-Chen Tamim-Yecheskel, Milana Fraiberg, Kamilya Kokabi, Saskia Freud, Oren Shatz, Letizia Marvaldi, Nemanja Subic, Ori Brenner, Michael Tsoory, Raya Eilam-Altstadter, Inbal Biton, Alon Savidor, Nili Dezorella, Gali Heimer, Christian Behrends, Bruria Ben-Zeev, Zvulun Elazar

Autophagy. 2021; 17(10): 3082–3095. Published online 2020 Dec 10. doi: 10.1080/15548627.2020.1852724

PMCID:: PMC8526015

Abstract Article PDF–13M

Select item 85259383.

Lysosomal targeting of autophagosomes by the TECPR domain of TECPR2

Milana Fraiberg, Bat-Chen Tamim-Yecheskel, Kamilya Kokabi, Nemanja Subic, Gali Heimer, Franziska Eck, Karsten Nalbach, Christian Behrends, Bruria Ben-Zeev, Oren Shatz, Zvulun Elazar

Autophagy. 2021; 17(10): 3096–3108. Published online 2020 Nov 29. doi: 10.1080/15548627.2020.1852727

PMCID:: PMC8525938

Abstract Article PDF–21M

Select item 80549644.

Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing

Jose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann

Neurol Genet. 2021 Apr; 7(2): e568. Published online 2021 Mar 3. doi: 10.1212/NXG.0000000000000568

PMCID:: PMC8054964

Abstract Article PDF–256K

Select item 78496585.

TECPR2 mutation–associated respiratory dysregulation: more than central apnea

Pallavi P. Patwari, Lisa F. Wolfe, Girish D. Sharma, Elizabeth Berry-Kravis

J Clin Sleep Med. 2020 Jun 15; 16(6): 977–982. Published online 2020 Jun 15. doi: 10.5664/jcsm.8434

PMCID:: PMC7849658

Abstract Article PDF–1.6M

Select item 47914906.

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, Elizabeth K. Ruzzo, Yi-Fan Lu, K. Melodi McSweeney, Bruria Ben-Zeev, Andreea Nissenkorn, Yair Anikster, Danit Oz-Levi, Ryan S. Dhindsa, Yuki Hitomi, Kelly Schoch, Rebecca C. Spillmann, Gali Heimer, Dina Marek-Yagel, Michal Tzadok, Yujun Han, Gordon Worley, Jennifer Goldstein, Yong-Hui Jiang, Doron Lancet, Elon Pras, Vandana Shashi, Duncan McHale, Anna C. Need, David B. Goldstein

Genet Med. 2015 Oct; 17(10): 774–781. Published online 2015 Jan 15. doi: 10.1038/gim.2014.191

PMCID:: PMC4791490

Abstract Article PDF–4.8M

Select item 46407087.

TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs

Kerstin Hahn, Cecilia Rohdin, Vidhya Jagannathan, Peter Wohlsein, Wolfgang Baumgärtner, Frauke Seehusen, Ingo Spitzbarth, Rodrigo Grandon, Cord Drögemüller, Karin Hultin Jäderlund

PLoS One. 2015; 10(11): e0141824. Published online 2015 Nov 10. doi: 10.1371/journal.pone.0141824

PMCID:: PMC4640708

Abstract Article PDF–8.5M

Select item 45447538.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 35166059.

Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

Danit Oz-Levi, Bruria Ben-Zeev, Elizabeth K. Ruzzo, Yuki Hitomi, Amir Gelman, Kimberly Pelak, Yair Anikster, Haike Reznik-Wolf, Ifat Bar-Joseph, Tsviya Olender, Anna Alkelai, Meira Weiss, Edna Ben-Asher, Dongliang Ge, Kevin V. Shianna, Zvulun Elazar, David B. Goldstein, Elon Pras, Doron Lancet

Am J Hum Genet. 2012 Dec 7; 91(6): 1065–1072. doi: 10.1016/j.ajhg.2012.09.015

PMCID:: PMC3516605

Abstract Article PDF–941K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 9

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity