Adeline L. Vanderver : rechercher sur Z-Library

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Livres
Articles (57)
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1

Tools for diagnosis of leukodystrophies and other disorders presenting with white matter disease

Adeline Vanderver

Journal:

Current Neurology and Neuroscience Reports

Année:

2005

Langue:

english

Fichier:

PDF, 161 KB

english, 2005

2

Maternal Uniparental Isodisomy Causing Autosomal Recessive GM1 Gangliosidosis: A Clinical Report

King, Jessica E., Dexter, Amy, Gadi, Inder, Zvereff, Val, Martin, Meaghan, Bloom, Miriam, Vanderver, Adeline, Pizzino, Amy, Schmidt, Johanna L.

Journal:

Journal of Genetic Counseling

Année:

2014

Langue:

english

Fichier:

PDF, 243 KB

english, 2014

3

Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy

Pizzino, Amy, Whitehead, Matthew, Sabet Rasekh, Parisa, Murphy, Jennifer, Helman, Guy, Bloom, Miriam, Evans, Sarah H., Murnick, John G., Conry, Joan, Taft, Ryan J., Simons, Cas, Vanderver, Adeline, Ad

Journal:

American Journal of Medical Genetics Part A

Année:

2018

Langue:

english

Fichier:

PDF, 805 KB

english, 2018

4

Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction

Wolf, Nicole I., Breur, Marjolein, Plug, Bonnie, Beerepoot, Shanice, Westerveld, Aimee S. R., Rappard, Diane F., Vries, Sharon I., Kole, Maarten H. P., Vanderver, Adeline, Knaap, Marjo S., Lindemans,

Journal:

Annals of Clinical and Translational Neurology

Année:

2020

Langue:

english

Fichier:

PDF, 2.61 MB

english, 2020

5

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

Martine Tétreault, Karine Choquet, Simona Orcesi, Davide Tonduti, Umberto Balottin, Martin Teichmann, Sébastien Fribourg, Raphael Schiffmann, Bernard Brais, Adeline Vanderver, Geneviève Bernard

Journal:

The American Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 526 KB

english, 2011

6

Characterization of transferrin glycopeptide structures in human cerebrospinal fluid

Kristy J. Brown, Adeline Vanderver, Eric P. Hoffman, Raphael Schiffmann, Yetrib Hathout

Journal:

International Journal of Mass Spectrometry

Année:

2012

Langue:

english

Fichier:

PDF, 1.09 MB

english, 2012

7

Isolated Cranial Nerve Enhancement in Metachromatic Leukodystrophy

Rani K. Singh, Robert T. Leshner, Nadja Kadom, Adeline L. Vanderver

Journal:

Pediatric Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 176 KB

english, 2009

8

MRI Features of 4 Female Patients With Pyruvate Dehydrogenase E1 alpha Deficiency

Nicholas Ah Mew, Johanna B. Loewenstein, Nadja Kadom, Uta Lichter-Konecki, Andrea L. Gropman, Jodie M. Martin, Adeline Vanderver

Journal:

Pediatric Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 390 KB

english, 2011

9

Neurotransmitter abnormalities and response to supplementation in SPG11

Adeline Vanderver, Davide Tonduti, Sarah Auerbach, Johanna L. Schmidt, Sumit Parikh, Gordon C. Gowans, Kelly E. Jackson, Pamela L. Brock, Marc Patterson, Michelle Nehrebecky, Rena Godfrey, Wadih M. Ze

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 521 KB

english, 2012

10

Relative Incidence of Inherited White Matter Disorders in Childhood to Acquired Pediatric Demyelinating Disorders

Adeline Vanderver, Heather Hussey, Johanna L. Schmidt, William Pastor, Heather J. Hoffman

Journal:

Seminars in Pediatric Neurology

Année:

2012

Langue:

english

Fichier:

PDF, 118 KB

english, 2012

11

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Taft, Ryan J., Vanderver, Adeline, Leventer, Richard J., Damiani, Stephen A., Simons, Cas, Grimmond, Sean M., Miller, David, Schmidt, Johanna, Lockhart, Paul J., Pope, Kate, Ru, Kelin, Crawford, Joann

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 644 KB

english, 2013

12

Time Series Proteome Profiling To Study Endoplasmic Reticulum Stress Response

Mintz, Michelle, Vanderver, Adeline, Brown, Kristy J., Lin, Joseph, Wang, Zuyi, Kaneski, Christine, Schiffmann, Raphael, Nagaraju, Kanneboyina, Hoffman, Eric P., Hathout, Yetrib

Journal:

Journal of Proteome Research

Année:

2008

Langue:

english

Fichier:

PDF, 2.23 MB

english, 2008

13

GJC2 promoter mutations causing Pelizaeus–Merzbacher-like disease

Gotoh, Leo, Inoue, Ken, Helman, Guy, Mora, Sara, Maski, Kiran, Soul, Janet S., Bloom, Miriam, Evans, Sarah H., Goto, Yu-ichi, Caldovic, Ljubica, Hobson, Grace M., Vanderver, Adeline

Journal:

Molecular Genetics and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 771 KB

english, 2014

14

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations

Vanderver, Adeline, Tonduti, Davide, Kahn, Ilana, Schmidt, Johanna, Medne, Livija, Vento, Jodie, Chapman, Kimberly A., Lanpher, Brendan, Pearl, Phillip, Gropman, Andrea, Lourenco, Charles, Bamforth, J

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 1.36 MB

english, 2014

15

Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

Fraser, Jamie L., Vanderver, Adeline, Yang, Sandra, Chang, Taeun, Cramp, Laura, Vezina, Gilbert, Lichter-Konecki, Uta, Cusmano-Ozog, Kristina P., Smpokou, Patroula, Chapman, Kimberly A., Zand, Dina J.

Journal:

Molecular Genetics and Metabolism Reports

Année:

2014

Langue:

english

Fichier:

PDF, 524 KB

english, 2014

16

Identification of a Novel de Novo p.Phe932Ile KCNT1 Mutation in a Patient With Leukoencephalopathy and Severe Epilepsy

Vanderver, Adeline, Simons, Cas, Schmidt, Johanna L., Pearl, Philip L., Bloom, Miriam, Lavenstein, Bennett, Miller, David, Grimmond, Sean M., Taft, Ryan J.

Journal:

Pediatric Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 906 KB

english, 2014

17

Obituary

Vanderver, Adeline, Simons, Cas, Schmidt, Johanna L., Pearl, Philip L., Bloom, Miriam, Lavenstein, Bennett, Miller, David, Grimmond, Sean M., Taft, Ryan J.

Journal:

Année:

1961

Langue:

english

Fichier:

PDF, 173 KB

english, 1961

18

Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

Hendriksz, Christian J., Muenzer, Joseph, Vanderver, Adeline, Davis, Jonathan M., Burton, Barbara K., Mendelsohn, Nancy J., Wang, Nan, Pan, Luying, Pano, Arian, Cammarata, Sue, Barbier, Ann J.

Journal:

Molecular Genetics and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 47 KB

english, 2014

19

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination

Shehata, Laila, Simeonov, Dimitre R., Raams, Anja, Wolfe, Lynne, Vanderver, Adeline, Li, Xueli, Huang, Yan, Garner, Shannon, Boerkoel, Cornelius F., Thurm, Audrey, Herman, Gail E., Tifft, Cynthia J.,

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 3.26 MB

english, 2014

20

Hypomyelinating leukodystrophies: Translational research progress and prospects

Pouwels, Petra J. W., Vanderver, Adeline, Bernard, Genevieve, Wolf, Nicole I., Dreha-Kulczewksi, Steffi F., Deoni, Sean C. L., Bertini, Enrico, Kohlschütter, Alfried, Richardson, William, ffrench-Cons

Journal:

Annals of Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 455 KB

english, 2014

21

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

Renvoisé, Benoît, Chang, Jaerak, Singh, Rajat, Yonekawa, Sayuri, FitzGibbon, Edmond J., Mankodi, Ami, Vanderver, Adeline, Schindler, Alice B., Toro, Camilo, Gahl, William A., Mahuran, Don J., Blacksto

Journal:

Annals of Clinical and Translational Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 1.43 MB

english, 2014

22

Update on leukodystrophies

Vanderver, Adeline

Journal:

Future Neurology

Année:

2007

Langue:

english

Fichier:

PDF, 466 KB

english, 2007

23

Case definition and classification of leukodystrophies and leukoencephalopathies

Vanderver, Adeline, Prust, Morgan, Tonduti, Davide, Mochel, Fanny, Hussey, Heather M., Helman, Guy, Garbern, James, Eichler, Florian, Labauge, Pierre, Aubourg, Patrick, Rodriguez, Diana, Patterson, Ma

Journal:

Molecular Genetics and Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 279 KB

english, 2015

24

Consensus statement on preventive and symptomatic care of leukodystrophy patients

Van Haren, Keith, Bonkowsky, Joshua L., Bernard, Genevieve, Murphy, Jennifer L., Pizzino, Amy, Helman, Guy, Suhr, Dean, Waggoner, Jacque, Hobson, Don, Vanderver, Adeline, Patterson, Marc C.

Journal:

Molecular Genetics and Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 388 KB

english, 2015

25

Emerging Treatments for Pediatric Leukodystrophies

Helman, Guy, Van Haren, Keith, Escolar, Maria L., Vanderver, Adeline

Journal:

Pediatric Clinics of North America

Année:

2015

Langue:

english

Fichier:

PDF, 512 KB

english, 2015

26

Family History of Autoimmune Disease in Patients with Aicardi-Goutières Syndrome

Schmidt, Johanna L., Olivieri, Ivana, Vento, Jodie M., Fazzi, Elisa, Gordish-Dressman, Heather, Orcesi, Simona, Vanderver, Adeline

Journal:

Clinical & Developmental Immunology

Année:

2012

Langue:

english

Fichier:

PDF, 76 KB

english, 2012

27

Neurologist Comfort in the Use of Next-Generation Sequencing Diagnostics

Helman, Guy, Bonkowsky, Joshua L., Vanderver, Adeline

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 62 KB

english, 2016

28

Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

Hendriksz, Christian J., Muenzer, Joseph, Vanderver, Adeline, Davis, Jonathan M., Burton, Barbara K., Mendelsohn, Nancy J., Wang, Nan, Pan, Luying, Pano, Arian, Barbier, Ann J.

Journal:

Molecular Genetics and Metabolism Reports

Année:

2015

Langue:

english

Fichier:

PDF, 324 KB

english, 2015

29

More Than Hypomyelination in Pol-III Disorder

Vanderver, Adeline, Tonduti, Davide, Bernard, Genevieve, Lai, Jinping, Rossi, Christopher, Carosso, Giovanni, Quezado, Martha, Wong, Kondi, Schiffmann, Raphael

Journal:

Journal of Neuropathology and Experimental Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 1018 KB

english, 2013

30

Whole exome sequencing in patients with white matter abnormalities

Vanderver, Adeline, Simons, Cas, Helman, Guy, Crawford, Joanna, Wolf, Nicole I., Bernard, Geneviève, Pizzino, Amy, Schmidt, Johanna L., Takanohashi, Asako, Miller, David, Khouzam, Amirah, Rajan, Vani,

Journal:

Annals of Neurology

Année:

2016

Langue:

english

Fichier:

PDF, 247 KB

english, 2016

31

Targeted leukodystrophy diagnosis based on charges and yields for testing

Richards, Jackson, Korgenski, E. Kent, Taft, Ryan J., Vanderver, Adeline, Bonkowsky, Joshua L.

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 144 KB

english, 2015

32

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

Kevelam, Sietske, Steenweg, Marjan, Srivastava, Siddharth, Helman, Guy, Naidu, Sakkubai, Schiffmann, Raphael, Blaser, Susan, Vanderver, Adeline, Wolf, Nicole, van der Knaap, Marjo

Journal:

Neuropediatrics

Année:

2016

Langue:

english

Fichier:

PDF, 170 KB

english, 2016

33

Corrigendum to “GJC2 promoter mutations causing Pelizaeus–Merzbacher-like disease” [Mol. Genet. Metab. 111 (2014) 393–398]

Gotoh, Leo, Inoue, Ken, Helman, Guy, Mora, Sara, Maski, Kiran, Soul, Janet S., Bloom, Miriam, Evans, Sarah H., Goto, Yu-ichi, Caldovic, Ljubica, Hobson, Grace M., Vanderver, Adeline

Journal:

Molecular Genetics and Metabolism

Année:

2016

Langue:

english

Fichier:

PDF, 118 KB

english, 2016

34

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism

Ferdinandusse, Sacha, Falkenberg, Kim D, Koster, Janet, Mooyer, Petra A, Jones, Richard, van Roermund, Carlo W T, Pizzino, Amy, Schrader, Michael, Wanders, Ronald J A, Vanderver, Adeline, Waterham, Ha

Journal:

Journal of Medical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 910 KB

english, 2016

35

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System

Vrij-van den Bos, Suzanne, Hol, Janna, La Piana, Roberta, Harting, Inga, Vanderver, Adeline, Barkhof, Frederik, Cayami, Ferdy, van Wieringen, Wessel, Pouwels, Petra, van der Knaap, Marjo, Bernard, Gen

Journal:

Neuropediatrics

Année:

2017

Langue:

english

Fichier:

PDF, 372 KB

english, 2017

36

Novel Infantile-Onset Leukoencephalopathy With High Lactate Level and Slow Improvement

Steenweg, Marjan E., Vanderver, Adeline, Ceulemans, Berten, Prabhakar, Prab, Régal, Luc, Fattal-Valevski, Aviva, Richer, Lawrence, Simonetti, Barbara Goeggel, Barkhof, Frederik, Rodenburg, Richard J.

Journal:

Archives of Neurology

Année:

2012

Langue:

english

Fichier:

PDF, 533 KB

english, 2012

37

Swaiman's Pediatric Neurology || Genetic and Metabolic Disorders of the White Matter

Vanderver, Adeline

Année:

2017

Langue:

english

Fichier:

PDF, 1.50 MB

english, 2017

38

Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo

McNeill, Nathan, Nasca, Alessia, Reyes, Aurelio, Lemoine, Benjamin, Cantarel, Brandi, Vanderver, Adeline, Schiffmann, Raphael, Ghezzi, Daniele

Journal:

Neurology: Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 486 KB

english, 2017

39

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC

Hamilton, Eline M.C., Bertini, Enrico, Kalaydjieva, Luba, Morar, Bharti, Dojčáková, Dana, Liu, Judy, Vanderver, Adeline, Curiel, Julian, Persoon, Claudia M., Diodato, Daria, Pinelli, Lorenzo, van der

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 552 KB

english, 2017

40

Adulthood leukodystrophies

Köhler, Wolfgang, Curiel, Julian, Vanderver, Adeline

Journal:

Nature Reviews Neurology (formerly Nature Clinical Practice Neurology)

Année:

2018

Langue:

english

Fichier:

PDF, 875 KB

english, 2018

41

Death rates in the United States due to leukodystrophies in the global leukodystrophy initiative registry and related lysosomal disorders

Barczykowski, Amy L., Langan, Thomas J., Vanderver, Adeline, Jalal, Kabir, Carter, Randy L.

Journal:

Molecular Genetics and Metabolism

Année:

2018

Langue:

english

Fichier:

PDF, 44 KB

english, 2018

42

Health-Related Quality of Life for Genetically Determined Leukoencephalopathy Patients

Mirchi, Amytice, Pelletier, Félixe, Tran, Luan T., Keller, Stephanie, Braverman, Nancy, Tonduti, Davide, Vanderver, Adeline, Roncarolo, Federico, Pizzino, Amy, Dilenge, Marie-Emmanuelle, Poulin, Chant

Journal:

Pediatric Neurology

Année:

2018

Langue:

english

Fichier:

PDF, 979 KB

english, 2018

43

Astrocytes, an active player in Aicardi-Goutières syndrome

Sase, Sunetra, Takanohashi, Asako, Vanderver, Adeline, Almad, Akshata

Journal:

Brain Pathology

Année:

2018

Langue:

english

Fichier:

PDF, 443 KB

english, 2018

44

Complex care of patients with multiple sulfatase deficiency: Clinical cases and guideline consensus statement

Ahrens-Nicklas, Rebecca, Schlotawa, Lars, Ballabio, Andrea, Brunetti, Nicola, De Castro, Mauricio, Ficicioglu, Can, Finglas, Alan, Kirmse, Brian, Lee, Marcus, Olsen, Amber, Vanderver, Adeline, Adang,

Journal:

Molecular Genetics and Metabolism

Année:

2018

Fichier:

PDF, 54 KB

2018

45

Complex care of patients with multiple sulfatase deficiency: Clinical cases and guideline consensus statement

Ahrens-Nicklas, Rebecca, Schlotawa, Lars, Ballabio, Andrea, Brunetti, Nicola, De Castro, Mauricio, Ficicioglu, Can, Finglas, Alan, Kirmse, Brian, Lee, Marcus, Olsen, Amber, Vanderver, Adeline, Adang,

Journal:

Molecular Genetics and Metabolism

Année:

2018

Langue:

english

Fichier:

PDF, 54 KB

english, 2018

46

Correction to Helman et al (2016) MRI spectrum of SDH deficiency-related infantile leukoencephalopathy.

Helman, Guy, Vanderver, Adeline

Journal:

Annals of Neurology

Année:

2018

Langue:

english

Fichier:

PDF, 83 KB

english, 2018

47

Dystonia in RNA Polymerase III‐Related Leukodystrophy

Al Yazidi, Ghalia, Tran, Luan T., Guerrero, Kether, Vanderver, Adeline, Schiffmann, Raphael, Wolf, Nicole I., Chouinard, Sylvain, Bernard, Geneviève

Journal:

Movement Disorders Clinical Practice

Année:

2018

Langue:

english

Fichier:

PDF, 1024 KB

english, 2018

48

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum

Emrick, Lisa T., Rosenfeld, Jill A., Lalani, Seema R., Jain, Mahim, Desai, Nilesh K., Larson, Austin, Kripps, Kimberly, Vanderver, Adeline, Taft, Ryan J., Bluske, Krista, Perry, Denise, Nagakura, Hone

Journal:

Genetics in Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 1.45 MB

english, 2018

49

Intrathecally administered recombinant human arylsulfatase A in patients with late-infantile metachromatic leukodystrophy: Phase 2b clinical trial design

Whiteman, David, Vanderver, Adeline, Krägeloh-Mann, Ingeborg, Gray, Jill, Wu, James, Wasilewski, Margaret

Journal:

Molecular Genetics and Metabolism

Année:

2019

Fichier:

PDF, 47 KB

2019

50

Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200

Choquet, Karine, Forget, Diane, Meloche, Elisabeth, Dicaire, Marie-Josée, Bernard, Geneviève, Vanderver, Adeline, Schiffmann, Raphael, Fabian, Marc R, Teichmann, Martin, Coulombe, Benoit, Brais, Berna

Journal:

Journal of Biological Chemistry

Année:

2019

Langue:

english

Fichier:

PDF, 4.84 MB

english, 2019