Adang, Laura : rechercher sur Z-Library

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1

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Rice, Gillian I, Park, Sehoon, Gavazzi, Francesco, Adang, Laura A, Ayuk, Loveline A, Van Eyck, Lien, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, Billette de Vil

Journal:

Année:

2020

Langue:

english

Fichier:

PDF, 612 KB

english, 2020

2

Septins Regulate Actin Organization and Cell-Cycle Arrest through Nuclear Accumulation of NCK Mediated by SOCS7

Brandon E. Kremer, Laura A. Adang, Ian G. Macara

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 1.64 MB

english, 2007

3

Pediatric anti-NMDA receptor encephalitis is seasonal

Adang, Laura A., Lynch, David R., Panzer, Jessica A.

Journal:

Annals of Clinical and Translational Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 142 KB

english, 2014

4

Rapamycin Blocks Production of KSHV/HHV8: Insights into the Anti-Tumor Activity of an Immunosuppressant Drug

Nichols, Lisa A., Adang, Laura A., Kedes, Dean H., Luftig, Micah

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 822 KB

english, 2011

5

Pediatric Multiple Sclerosis

Journal:

Current Pediatrics Reports

Année:

2017

Langue:

english

Fichier:

PDF, 842 KB

english, 2017

6

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

Adang, Laura A., Sherbini, Omar, Ball, Laura, Bloom, Miriam, Darbari, Anil, Amartino, Hernan, DiVito, Donna, Eichler, Florian, Escolar, Maria, Evans, Sarah H., Fatemi, Ali, Fraser, Jamie, Hollowell, L

Journal:

Molecular Genetics and Metabolism

Année:

2017

Langue:

english

Fichier:

PDF, 527 KB

english, 2017

7

Teaching NeuroImages: Atrophy in epileptic encephalopathy

Helbig, Ingo, Adang, Laura

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 150 KB

english, 2018

8

Progressive Multifocal Leukoencephalopathy

Adang, Laura, Berger, Joseph

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 528 KB

english, 2015

9

Aicardi goutières syndrome is associated with pulmonary hypertension

Adang, Laura A., Frank, David B., Gilani, Ahmed, Takanohashi, Asako, Ulrick, Nicole, Collins, Abigail, Cross, Zachary, Galambos, Csaba, Helman, Guy, Kanaan, Usama, Keller, Stephanie, Simon, Dawn, Sher

Journal:

Molecular Genetics and Metabolism

Année:

2018

Langue:

english

Fichier:

PDF, 11.23 MB

english, 2018

10

A natural history study of multiple sulfatase deficiency

Ahrens-Nicklas, Rebecca, Adang, Laura, Sherbini, Omar, Goodspeed, Kimberly, Hughes, Samuel, Finglas, Alan, Olsen, Amber, Schlotawa, Lars

Journal:

Molecular Genetics and Metabolism

Année:

2019

Langue:

english

Fichier:

PDF, 73 KB

english, 2019

11

Clinical presentation of metachromatic leukodystrophy

Adang, Laura, Patel, Akshilkumar, Sherbini, Omar, Kramer-Golinkoff, Julia, Shults, Justine, Vanderver, Adeline

Journal:

Molecular Genetics and Metabolism

Année:

2019

Fichier:

PDF, 64 KB

2019

12

Improved description of clinical features of multiple sulfatase deficiency: A meta-analysis of published cases

Schlotawa, Lars, Preiskorn, Joana, Ahrens-Nicklas, Rebecca, Adang, Laura A., Gärtner, Jutta, Friede, Tim

Journal:

Molecular Genetics and Metabolism

Année:

2019

Langue:

english

Fichier:

PDF, 51 KB

english, 2019

13

Validation of a symptom-based questionnaire for pediatric CNS demyelinating diseases

Waldman, Amy T., Yeshokumar, Anusha K., Lavery, Amy, Liu, Geraldine, Pineles, Stacy L., Repka, Michael X., Adang, Laura, Narula, Sona, Liu, Grant T.

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Année:

2019

Langue:

english

Fichier:

PDF, 171 KB

english, 2019

14

Developmental Outcomes of Aicardi Goutières Syndrome

Adang, Laura, Gavazzi, Francesco, De Simone, Micaela, Fazzi, Elisa, Galli, Jessica, Koh, Jamie, Kramer-Golinkoff, Julia, De Giorgis, Valentina, Orcesi, Simona, Peer, Kyle, Ulrick, Nicole, Woidill, Sar

Journal:

Journal of Child Neurology

Année:

2019

Langue:

english

Fichier:

PDF, 1005 KB

english, 2019

15

3279 First in Man

Adang, Laura, Gavazzi, Francesco, Giorgis, Valentina De, Simone, Micaela De, Fazzi, Elisa, Galli, Jessica, Koh, Jamie, Kramer-Golinkoff, Julia, Orcesi, Simona, Peer, Kyle, Ulrick, Nicole

Journal:

Journal of Clinical and Translational Science

Année:

2019

Langue:

english

Fichier:

PDF, 51 KB

english, 2019

16

3358 Developmental Outcomes of Aicardi Goutieres Syndrome

Adang, Laura, Patel, Akshilkumar, Sherbini, Omar, Kramer-Golinkoff, Julia, Shults, Justine, Vanderver, Adeline

Journal:

Journal of Clinical and Translational Science

Année:

2019

Langue:

english

Fichier:

PDF, 51 KB

english, 2019

17

3279 First in Man

Adang, Laura, Gavazzi, Francesco, Giorgis, Valentina De, Simone, Micaela De, Fazzi, Elisa, Galli, Jessica, Koh, Jamie, Kramer-Golinkoff, Julia, Orcesi, Simona, Peer, Kyle, Ulrick, Nicole

Journal:

Journal of Clinical and Translational Science

Année:

2019

Fichier:

PDF, 51 KB

2019

18

3358 Developmental Outcomes of Aicardi Goutieres Syndrome

Adang, Laura, Patel, Akshilkumar, Sherbini, Omar, Kramer-Golinkoff, Julia, Shults, Justine, Vanderver, Adeline

Journal:

Journal of Clinical and Translational Science

Année:

2019

Fichier:

PDF, 51 KB

2019

19

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Rice, Gillian I, Park, Sehoon, Gavazzi, Francesco, Adang, Laura A, Ayuk, Loveline A, Van Eyck, Lien, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, Billette de Vil

Journal:

Année:

2020

Fichier:

PDF, 612 KB

2020

20

Phenotypic and imaging spectrum associated with WDR45

Adang, Laura A., Pizzino, Amy, Malhotra, Alka, Dubbs, Holly, Williams, Catherine, Sherbini, Omar, Anttonen, Anna-Kaisa, Lesca, Gaetan, Linnankivi, Tarja, Laurencin, ChloÃ©, Milh, Matthieu, Perrine, Ch

Journal:

Pediatric Neurology

Année:

2020

Langue:

english

Fichier:

PDF, 19.52 MB

english, 2020

21

Development of a neurologic severity scale for Aicardi GoutiÃ¨res Syndrome

Adang, Laura A., Gavazzi, Francesco, Jawad, Abbas F., Cusack, Stacy V., Kopin, Kimberly, Peer, Kyle, Besnier, Constance, De Simone, Micaela, De Giorgis, Valentina, Orcesi, Simona, Fazzi, Elisa, Galli,

Journal:

Molecular Genetics and Metabolism

Année:

2020

Fichier:

PDF, 1.22 MB

2020

22

Teaching NeuroImages: Cranial neuropathies following clival infarction

Wong, Jeremy, Gambrah-Sampaney, Claudia, Adang, Laura

Journal:

Année:

2019

Fichier:

PDF, 208 KB

2019

23

Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification

Schlotawa, Lars, Adang, Laura A., Radhakrishnan, Karthikeyan, Ahrens-Nicklas, Rebecca C.

Journal:

International Journal of Molecular Sciences

Année:

2020

Fichier:

PDF, 435 KB

2020

24

A systematic review and metaâanalysis of published cases reveals the natural disease history in Multiple Sulfatase Deficiency

Schlotawa, Lars, Preiskorn, Joana, AhrensâNicklas, Rebecca, Schiller, Stina, Adang, Laura A., GÃ¤rtner, Jutta, Friede, Tim

Journal:

Journal of Inherited Metabolic Disease

Année:

2020

Fichier:

PDF, 3.13 MB

2020

25

Natural history of multiple sulfatase deficiency: retrospective phenotyping and functional variant analysis to characterize an ultraârare disease

Adang, Laura A., Schlotawa, Lars, Groeschel, Samuel, Kehrer, Christiane, Harzer, Klaus, StaretzâChacham, Orna, Silva, Thiago Oliveira, Schwartz, Ida Vanessa D., GÃ¤rtner, Jutta, De Castro, Mauricio,

Journal:

Journal of Inherited Metabolic Disease

Année:

2020

Fichier:

PDF, 1.11 MB

2020

26

Janus Kinase Inhibition in the AicardiâGoutiÃ¨res Syndrome

Vanderver, Adeline, Adang, Laura, Gavazzi, Francesco, McDonald, Katherine, Helman, Guy, Frank, David B., Jaffe, Nicole, Yum, Sabrina W., Collins, Abigail, Keller, Stephanie R., Lebon, Pierre, Meritet,

Journal:

New England Journal of Medicine

Année:

2020

Fichier:

PDF, 490 KB

2020

27

Glial cells in the driver seat of leukodystrophy pathogenesis

Garcia, Luis, Hacker, Julia L., Sase, Sunetra, Adang, Laura, Almad, Akshata

Journal:

Neurobiology of Disease

Année:

2020

Fichier:

PDF, 1.26 MB

2020