PMC Links for Books (Select 1461944) - PMC

Andrea Legati, Donatella Giovannini, Gaël Nicolas, Uriel López-Sánchez, Beatriz Quintáns, João Oliveira, Renee L. Sears, Eliana Marisa Ramos, Elizabeth Spiteri, María-Jesús Sobrido, Ángel Carracedo, Cristina Castro-Fernández, Stéphanie Cubizolle, Brent L. Fogel, Cyril Goizet, Joanna C. Jen, Suppachok Kirdlarp, Anthony E. Lang, Zosia Miedzybrodzka, Witoon Mitarnun, Martin Paucar, Henry Paulson, Jérémie Pariente, Anne-Claire Richard, Naomi S. Salins, Sheila A. Simpson, Pasquale Striano, Per Svenningsson, François Tison, Vivek K. Unni, Olivier Vanakker, Marja W. Wessels, Suppachok Wetchaphanphesat, Michele Yang, Francois Boller, Dominique Campion, Didier Hannequin, Marc Sitbon, Daniel H. Geschwind, Jean-Luc Battini, Giovanni Coppola

Nat Genet. Author manuscript; available in PMC 2015 Dec 1.

Published in final edited form as: Nat Genet. 2015 Jun; 47(6): 579–581. Published online 2015 May 4. doi: 10.1038/ng.3289

PMCID:: PMC4516721

Article PDF–491K

Select item 43035904.

Human intracellular ISG15 prevents interferon-a/ß over-amplification and auto-inflammation

Xianqin Zhang, Dusan Bogunovic, Béatrice Payelle-Brogard, Véronique Francois-Newton, Scott D. Speer, Chao Yuan, Stefano Volpi, Zhi Li, Ozden Sanal, Davood Mansouri, Ilhan Tezcan, Gillian I. Rice, Chunyuan Chen, Nahal Mansouri, Seyed Alireza Mahdaviani, Yuval Itan, Bertrand Boisson, Satoshi Okada, Lu Zeng, Xing Wang, Hui Jiang, Wenqiang Liu, Tiantian Han, Delin Liu, Tao Ma, Bo Wang, Mugen Liu, Jing-Yu Liu, Qing K. Wang, Dilek Yalnizoglu, Lilliana Radoshevich, Gilles Uzé, Philippe Gros, Flore Rozenberg, Shen-Ying Zhang, Emmanuelle Jouanguy, Jacinta Bustamante, Adolfo Garcìa-Sastre, Laurent Abel, Pierre Lebon, Luigi D. Notarangelo, Yanick J. Crow, Stèphanie Boisson-Dupuis, Jean-Laurent Casanova, Sandra Pellegrini

Nature. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Nature. 2015 Jan 1; 517(7532): 89–93. Published online 2014 Oct 12. doi: 10.1038/nature13801

PMCID:: PMC4303590

Article PDF–3.8M

Select item 41695465.

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

Gaël Nicolas, Agnès Jacquin, Christel Thauvin-Robinet, Anne Rovelet-Lecrux, Olivier Rouaud, Cyril Pottier, Marie-Hélène Aubriot-Lorton, Stéphane Rousseau, David Wallon, Christian Duvillard, Yannick Béjot, Thierry Frébourg, Maurice Giroud, Dominique Campion, Didier Hannequin

Eur J Hum Genet. 2014 Oct; 22(10): 1236–1238. Published online 2014 Feb 12. doi: 10.1038/ejhg.2014.9

PMCID:: PMC4169546

Article PDF–513K

Select item 39697606.

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

Matt Baker, Audrey J. Strongosky, Monica Y. Sanchez-Contreras, Shan Yang, Will Ferguson, Donald B. Calne, Susan Calne, A. Jon Stoessl, Judith E. Allanson, Daniel F. Broderick, Michael L. Hutton, Dennis W. Dickson, Owen A. Ross, Zbigniew K. Wszolek, Rosa Rademakers

Neurogenetics. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Neurogenetics. 2014 Mar; 15(1): 23–30. Published online 2013 Oct 18. doi: 10.1007/s10048-013-0378-5

PMCID:: PMC3969760

Article PDF–1.4M

Select item 38245757.

Loss of Function of Slc20a2 Associated with Familial Idiopathic Basal Ganglia Calcification in Humans Causes Brain Calcifications in Mice

Nina Jensen, Henrik Daa Schrøder, Eva Kildall Hejbøl, Ernst-Martin Füchtbauer, João Ricardo Mendes de Oliveira, Lene Pedersen

J Mol Neurosci. 2013; 51(3): 994–999. Published online 2013 Aug 10. doi: 10.1007/s12031-013-0085-6

PMCID:: PMC3824575

Article PDF–485K

Select item 33092048.

Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease

Marialuisa Quadri, Antonio Federico, Tianna Zhao, Guido J. Breedveld, Carla Battisti, Cathérine Delnooz, Lies-Anne Severijnen, Lara Di Toro Mammarella, Andrea Mignarri, Lucia Monti, Antioco Sanna, Peng Lu, Francesca Punzo, Giovanni Cossu, Rob Willemsen, Fabrizio Rasi, Ben A. Oostra, Bart P. van de Warrenburg, Vincenzo Bonifati

Am J Hum Genet. 2012 Mar 9; 90(3): 467–477. doi: 10.1016/j.ajhg.2012.01.017

PMCID:: PMC3309204

Article PDF–1.5M

Select item 33091879.

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

Karin Tuschl, Peter T. Clayton, Sidney M. Gospe, Jr., Shamshad Gulab, Shahnaz Ibrahim, Pratibha Singhi, Roosy Aulakh, Reinaldo T. Ribeiro, Orlando G. Barsottini, Maha S. Zaki, Maria Luz Del Rosario, Sarah Dyack, Victoria Price, Andrea Rideout, Kevin Gordon, Ron A. Wevers, W.K. “Kling” Chong, Philippa B. Mills

Am J Hum Genet. 2012 Mar 9; 90(3): 457–466. doi: 10.1016/j.ajhg.2012.01.018

Correction in:: Am J Hum Genet. 2016 Aug 4; 99(2): 521.

PMCID:: PMC3309187

Article PDF–1.0M

Select item 324150610.

Pericytes are required for blood–brain barrier integrity during embryogenesis

Richard Daneman, Lu Zhou, Amanuel A. Kebede, Ben A. Barres

Nature. Author manuscript; available in PMC 2011 Dec 16.

Published in final edited form as: Nature. 2010 Nov 25; 468(7323): 562–566. Published online 2010 Oct 13. doi: 10.1038/nature09513

PMCID:: PMC3241506

Article PDF–3.6M

Select item 312676511.

Mapping of the minimal inorganic phosphate transporting unit of human PiT2 suggests a structure universal to PiT-related proteins from all kingdoms of life

Pernille Bøttger, Lene Pedersen

BMC Biochem. 2011; 12: 21. Published online 2011 May 17. doi: 10.1186/1471-2091-12-21

PMCID:: PMC3126765

Article PDF–1.0M

Select item 287547712.

Familial idiopathic basal ganglia calcification: a challenging clinical-pathological correlation

Christian Wider, Dennis W. Dickson, Katherine J. Schweitzer, Daniel F. Broderick, Zbigniew K. Wszolek

J Neurol. Author manuscript; available in PMC 2010 May 25.

Published in final edited form as: J Neurol. 2009 May; 256(5): 839–842. Published online 2009 Mar 1. doi: 10.1007/s00415-009-5025-6

PMCID:: PMC2875477

Article PDF–934K

Select item 277265313.

Cockayne Syndrome in Adults: Review With Clinical and Pathologic Study of a New Case

Isabelle Rapin, Karen Weidenheim, Yelena Lindenbaum, Pearl Rosenbaum, Saumil N. Merchant, Sindu Krishna, Dennis W. Dickson

J Child Neurol. Author manuscript; available in PMC 2009 Nov 3.

Published in final edited form as: J Child Neurol. 2006 Nov; 21(11): 991–1006. doi: 10.1177/08830738060210110101

PMCID:: PMC2772653

Article PDF–4.0M

Select item 173916714.

Subacute dementia and imaging correlates in a case of Fahr's disease

T Benke, E Karner, K Seppi, M Delazer, J Marksteiner, E Donnemiller

J Neurol Neurosurg Psychiatry. 2004 Aug; 75(8): 1163–1165. doi: 10.1136/jnnp.2003.019547

PMCID:: PMC1739167

Summary PDF–119K

Select item 137798415.

Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).

D H Geschwind, M Loginov, J M Stern

Am J Hum Genet. 1999 Sep; 65(3): 764–772. doi: 10.1086/302558

Correction in:: Am J Hum Genet. 1999 Nov; 65(5): 1486.

PMCID:: PMC1377984

Summary PDF–269K

Select item 102818416.

Basal ganglia calcification in Down's syndrome.

S Takashima, L E Becker

J Neurol Neurosurg Psychiatry. 1985 Jan; 48(1): 61–64. doi: 10.1136/jnnp.48.1.61

PMCID:: PMC1028184

Summary Page Browse PDF–1.2M

Select item 49952717.

CALCIFICATION OF THE CORPUS STRIATUM AND DENTATE NUCLEI OCCURRING IN A FAMILY

J. Foley

J Neurol Neurosurg Psychiatry. 1951 Nov; 14(4): 253–261. doi: 10.1136/jnnp.14.4.253

PMCID:: PMC499527

Summary Page Browse PDF–2.3M

Select item 49534518.

THE INFLUENCE OF A VASCULAR FACTOR ON THE DISTRIBUTION OF SYMMETRICAL CEREBRAL CALCIFICATIONS

R. M. Norman, H. Urich

J Neurol Neurosurg Psychiatry. 1960 May; 23(2): 142–147. doi: 10.1136/jnnp.23.2.142

PMCID:: PMC495345

Summary Page Browse PDF–2.1M

Select item 49266319.

Familial idiopathic cerebral calcifications.

F Boller, M Boller, J Gilbert

J Neurol Neurosurg Psychiatry. 1977 Mar; 40(3): 280–285. doi: 10.1136/jnnp.40.3.280

PMCID:: PMC492663

Summary Page Browse PDF–1.3M

Select item 49052520.

Idiopathic familial basal ganglia calcification associated with juvenile hypertension.

K Puvanendran, P K Wong

J Neurol Neurosurg Psychiatry. 1980 Mar; 43(3): 288. doi: 10.1136/jnnp.43.3.288

PMCID:: PMC490525

Summary Page Browse PDF–182K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 1 to 20 of 21

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity