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Select item 94876251.

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

Jayesh M. Bhatt, Andrew Bush, Marjo van Gerven, Andreea Nissenkorn, Michael Renke, Lian Yarlett, Malcolm Taylor, Thomy Tonia, Adilia Warris, Stefan Zielen, Shairbanu Zinna, Peter J.F.M. Merkus

Eur Respir Rev. 2015 Dec; 24(138): 565–581. doi: 10.1183/16000617.0066-2015

PMCID:: PMC9487625

Abstract Article PDF–435K

Select item 92918972.

Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia

Stefanie J.G. Veenhuis, Nienke J.H. van Os, Anjo J.W.M. Janssen, Marjo H.J.C. van Gerven, Karlien L.M. Coene, Udo. F.H. Engelke, Ron A. Wevers, Gerjen H. Tinnevelt, Rob ter Heine, Bart P.C. van de Warrenburg, Corry M.R. Weemaes, Nel Roeleveld, Michèl A.A.P. Willemsen

Mov Disord. 2021 Dec; 36(12): 2951–2957. Published online 2021 Sep 13. doi: 10.1002/mds.28788

PMCID:: PMC9291897

Abstract Article PDF–909K

Select item 82539363.

Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives

Sharon A McGrath-Morrow, Cynthia C Rothblum-Oviatt, Jennifer Wright, Haley Schlechter, Maureen A Lefton-Greif, Valerie A Natale, Thomas O Crawford, Howard M Lederman

J Multidiscip Healthc. 2021; 14: 1637–1644. Published online 2021 Jun 28. doi: 10.2147/JMDH.S295486

PMCID:: PMC8253936

Abstract Article PDF–229K

Select item 79868454.

Dysarthria in children and adults with ataxia telangiectasia

Stefanie J G Veenhuis, Nienke J H van OS, Marjo H J C van Gerven, Leenke van Haaften, Elisabeth H Mulder, Corry M R Weemaes, Michèl A A P Willemsen

Dev Med Child Neurol. 2021 Apr; 63(4): 450–456. Published online 2021 Jan 31. doi: 10.1111/dmcn.14811

PMCID:: PMC7986845

Abstract Article PDF–132K

Select item 79453595.

Growth in ataxia telangiectasia

Valerie A. I. Natale, Tim J. Cole, Cynthia Rothblum-Oviatt, Jennifer Wright, Thomas O. Crawford, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Haley Schlechter, Howard M. Lederman

Orphanet J Rare Dis. 2021; 16: 123. Published online 2021 Mar 10. doi: 10.1186/s13023-021-01716-5

Correction in:: Orphanet J Rare Dis. 2021; 16: 248.

PMCID:: PMC7945359

Abstract Article PDF–1.2M

Select item 77398446.

Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders

David Buchbinder, Fabian Hauck, Michael H. Albert, Anita Rack, Shahrzad Bakhtiar, Anna Shcherbina, Elena Deripapa, Kathleen E. Sullivan, Ludmila Perelygina, Marc Eloit, Bénédicte Neven, Philippe Pérot, Despina Moshous, Félipe Suarez, Christine Bodemer, Francisco A. Bonilla, Louise E. Vaz, Alfons L. Krol, Christoph Klein, Mikko Seppanen, Diane J. Nugent, Jasjit Singh, Hans D. Ochs

J Clin Immunol. Author manuscript; available in PMC 2020 Dec 16.

Published in final edited form as: J Clin Immunol. 2019 Jan; 39(1): 81–89. Published online 2019 Jan 3. doi: 10.1007/s10875-018-0581-0

PMCID:: PMC7739844

Abstract Article PDF–231K

Select item 74972897.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 73638028.

Diabetes in Patients With Ataxia Telangiectasia: A National Cohort Study

Helena Donath, Ursula Hess, Matthias Kieslich, Marius Theis, Ute Ohlenschläger, Ralf Schubert, Sandra Woelke, Stefan Zielen

Front Pediatr. 2020; 8: 317. Published online 2020 Jul 9. doi: 10.3389/fped.2020.00317

PMCID:: PMC7363802

Abstract Article PDF–567K

Select item 72864719.

Burden of hereditary cancer susceptibility in unselected patients with pancreatic ductal adenocarcinoma referred for germline screening

Carol Cremin, Michael Kuan‐Ching Lee, Quan Hong, Carolyn Hoeschen, Anna Mackenzie, Katherine Dixon, Mary McCullum, Jennifer Nuk, Steve Kalloger, Joanna Karasinska, Charles Scudamore, Peter T. W. Kim, Fergal Donnellan, Eric C. S. Lam, Howard J. Lim, Cynthia L. Neben, Will Stedden, Alicia Y. Zhou, David F. Schaeffer, Sophie Sun, Daniel J. Renouf, Kasmintan A. Schrader

Cancer Med. 2020 Jun; 9(11): 4004–4013. Published online 2020 Apr 7. doi: 10.1002/cam4.2973

PMCID:: PMC7286471

Abstract Article PDF–280K

Select item 703523610.

Classic ataxia-telangiectasia: the phenotype of long-term survivors

Nienke J. H. van Os, Marcel van Deuren, Corry M. R. Weemaes, Judith van Gaalen, Helma Hijdra, Alexander M. R. Taylor, Bart P. C. van de Warrenburg, Michèl A. A. P. Willemsen

J Neurol. 2020; 267(3): 830–837. Published online 2019 Nov 27. doi: 10.1007/s00415-019-09641-1

PMCID:: PMC7035236

Abstract Article PDF–405K

Select item 689297411.

Hematopoietic Stem Cell Transplantation Restores Naïve T-Cell Populations in Atm-Deficient Mice and in Preemptively Treated Patients With Ataxia-Telangiectasia

Ruth Duecker, Patrick C. Baer, Aileen Buecker, Sabine Huenecke, Lisa-Marie Pfeffermann, Ute Modlich, Shahrzad Bakhtiar, Peter Bader, Stefan Zielen, Ralf Schubert

Front Immunol. 2019; 10: 2785. Published online 2019 Nov 27. doi: 10.3389/fimmu.2019.02785

PMCID:: PMC6892974

Abstract Article PDF–1.0M

Select item 675113512.

Past and present of eye movement abnormalities in ataxia-telangiectasia

Sherry Y. Tang, Aasef G. Shaikh

Cerebellum. Author manuscript; available in PMC 2020 Jun 1.

Published in final edited form as: Cerebellum. 2019 Jun; 18(3): 556–564. doi: 10.1007/s12311-018-0990-x

PMCID:: PMC6751135

Abstract Article PDF–1.2M

Select item 659029913.

Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia

Katherine Schon, Nienke J.H. van Os, Nicholas Oscroft, Helen Baxendale, Daniel Scoffings, Julian Ray, Mohnish Suri, William P. Whitehouse, Puja R. Mehta, Natasha Everett, Leonardo Bottolo, Bart P. van de Warrenburg, Philip J. Byrd, Corry Weemaes, Michel A. Willemsen, Marc Tischkowitz, Prof A. Malcolm Taylor, Anke E. Hensiek

Ann Neurol. 2019 Feb; 85(2): 170–180. Published online 2019 Jan 29. doi: 10.1002/ana.25394

PMCID:: PMC6590299

Abstract Article PDF–3.6M

Select item 655722414.

Achieving consensus advice for paediatricians and other health professionals: on prevention, recognition and management of conflict in paediatric practice

Mike Linney, Richard D W Hain, Dominic Wilkinson, Peter-Marc Fortune, Sarah Barclay, Vic Larcher, Jacqueline Fitzgerald, Emily Arkell

Arch Dis Child. 2019 May; 104(5): 413–416. Published online 2019 Apr 18. doi: 10.1136/archdischild-2018-316485

PMCID:: PMC6557224

Article PDF–215K

Select item 635342915.

Bilateral Deep Brain Stimulation of the Globus Pallidus Pars Interna in a Patient with Variant Ataxia‐Telangiectasia

Dejan Georgiev, Dwij Mehta, André Zacharia, Ruben Saman Vinke, Catherine Milabo, Joseph Candelario, Elina Tripoliti, Jonathan A. Hyam, Ludvic Zrinzo, Marwan Hariz, Seán O'Riordan, Thomas Foltynie, Patricia Limousin

Mov Disord Clin Pract. 2016 Jul-Aug; 3(4): 405–408. Published online 2016 Jan 21. doi: 10.1002/mdc3.12287

PMCID:: PMC6353429

Article PDF–148K

Select item 632458216.

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia

Jennifer M. Puck

Immunol Rev. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Immunol Rev. 2019 Jan; 287(1): 241–252. doi: 10.1111/imr.12729

PMCID:: PMC6324582

Abstract Article PDF–1.3M

Select item 621582217.

Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia

Shahrzad Bakhtiar, Sandra Woelke, Sabine Huenecke, Matthias Kieslich, Alexander Malcolm Taylor, Ralf Schubert, Stefan Zielen, Peter Bader

Front Immunol. 2018; 9: 2495. Published online 2018 Oct 29. doi: 10.3389/fimmu.2018.02495

PMCID:: PMC6215822

Abstract Article PDF–2.0M

Select item 563213218.

Outcome of Hematopoietic Cell Transplantation for DNA-Double Strand Breakage Repair Disorders

James Slack, Michael H Albert, Dmitry Balashov, Bernd H Belohradsky, Alice Bertaina, Jack Bleesing, Claire Booth, Jochen Büchner, Rebecca H Buckley, Marie Ouachée-Chardin, Elena Deripapa, Katarzyna Drabko, Mary Eapen, Tobias Feuchtinger, Andrea Finocchi, H Bobby Gaspar, Sujal Ghosh, Alfred Gillio, Luis I Gonzalez-Granado, Eyal Grunebaum, Tayfun Güngör, Carsten Heilmann, Merja Helminen, Kohei Higuchi, Kohsuke Imai, Krzysztof Kalwak, Nubuo Kanazawa, Gülsün Karasu, Zeynep Y Kucuk, Alexandra Laberko, Andrzej Lange, Nizar Mahlaoui, Roland Meisel, D Moshous, Hideki Muramatsu, Suhag Parikh, Srdjan Pasic, Irene Schmid, Catharina Schuetz, Ansgar Schulz, Kirk R Schultz, Peter J Shaw, Mary A Slatter, Karl-Walter Sykora, Shinobu Tamura, Mervi Taskinen, Angela Wawer, Beata Wolska-Kuśnierz, Morton J Cowan, Alain Fischer, Andrew R Gennery

J Allergy Clin Immunol. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: J Allergy Clin Immunol. 2018 Jan; 141(1): 322–328.e10. Published online 2017 Apr 7. doi: 10.1016/j.jaci.2017.02.036

PMCID:: PMC5632132

Abstract Article PDF–175K

Select item 512328019.

Ataxia telangiectasia: a review

Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Thomas O. Crawford, Howard M. Lederman

Orphanet J Rare Dis. 2016; 11: 159. Published online 2016 Nov 25. doi: 10.1186/s13023-016-0543-7

PMCID:: PMC5123280

Abstract Article PDF–760K

Select item 467373020.

Body composition, muscle strength and hormonal status in patients with ataxia telangiectasia: a cohort study

H. Pommerening, S. van Dullemen, M. Kieslich, R. Schubert, S. Zielen, S. Voss

Orphanet J Rare Dis. 2015; 10: 155. Published online 2015 Dec 9. doi: 10.1186/s13023-015-0373-z

PMCID:: PMC4673730

Abstract Article PDF–603K

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