Search

Your search keyword '"Schiffmann, Raphael"' showing total 15 results
Start Over Author "Schiffmann, Raphael" Journal annals of neurology
15 results on '"Schiffmann, Raphael"'

1. Whole Exome Sequencing in Patients with White Matter Abnormalities

Author

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, Ramos, Erica, Chowdhury, Shimul, Hambuch, Tina, Ru, Kelin, Baillie, Gregory J., Grimmond, Sean M., Caldovic, Ljubica, Devaney, Joseph, Bloom, Miriam, Evans, Sarah H., Murphy, Jennifer L. P., McNeill, Nathan, Fogel, Brent L., Schiffmann, Raphael, van der Knaap, Marjo S., and Taft, Ryan J.

Published
2016
Full Text
View/download PDF

3. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

Author

Mochel, Fanny, Schiffmann, Raphael, Steenweg, Marjan E., Akman, Hasan O., Wallace, Mary, Sedel, Frédéric, Laforêt, Pascal, Levy, Richard, Powers, Michael J., Demeret, Sophie, Maisonobe, Thierry, Froissart, Roseline, Da Nobrega, Bruno Barcelos, Fogel, Brent L., Natowicz, Marvin R., Lubetzki, Catherine, Durr, Alexandra, Brice, Alexis, Rosenmann, Hanna, Barash, Varda, Kakhlon, Or, Gomori, Moshe J., van der Knaap, Marjo S., and Lossos, Alexander

Published
2012
Full Text
View/download PDF

4. Free sialic acid storage disease without sialuria

Author

Mochel, Fanny, primary, Yang, Bingzhi, additional, Barritault, Julie, additional, Thompson, Jerry N., additional, Engelke, Udo F. H., additional, McNeill, Nathan H., additional, Benko, William S., additional, Kaneski, Christine R., additional, Adams, David R., additional, Tsokos, Maria, additional, Abu-Asab, Mones, additional, Huizing, Marjan, additional, Seguin, Francois, additional, Wevers, Ron A., additional, Ding, Jiahuan, additional, Verheijen, Frans W., additional, and Schiffmann, Raphael, additional

Published
2009
Full Text
View/download PDF

5. Randomized, controlled trial of miglustat in Gaucher's disease type 3

Author

Schiffmann, Raphael, primary, FitzGibbon, Edmond J., additional, Harris, Chris, additional, DeVile, Catherine, additional, Davies, Elin H., additional, Abel, Larry, additional, Van Schaik, Ivo N., additional, Benko, William S., additional, Timmons, Margaret, additional, Ries, Markus, additional, and Vellodi, Ashok, additional

Published
2008
Full Text
View/download PDF

6. Insertion of mutant proteolipid protein results in missorting of myelin proteins

Author

Vaurs-Barriere, Catherine, primary, Wong, Kondi, additional, Weibel, Thais D., additional, Abu-Asab, Mones, additional, Weiss, Michael D., additional, Kaneski, Christine R., additional, Mixon, Tong-Hui, additional, Bonavita, Simona, additional, Creveaux, Isabelle, additional, Heiss, John D., additional, Tsokos, Maria, additional, Goldin, Ehud, additional, Quarles, Richard H., additional, Boespflug-Tanguy, Odile, additional, and Schiffmann, Raphael, additional

Published
2003
Full Text
View/download PDF

9. Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease

Author

Schiffmann, Raphael, primary, Heyes, Melvyn P., additional, Aerts, J. M., additional, Dambrosia, James M., additional, Patterson, Marc C., additional, DeGraba, Thomas, additional, Parker, Colette C., additional, Zirzow, Gregory C., additional, Oliver, Katherine, additional, Tedeschi, Gioacchino, additional, Brady, Roscoe O., additional, and Barton, Norman W., additional

Published
1997
Full Text
View/download PDF

10. Leukodystrophy in patients with ovarian dysgenesis

Author

Schiffmann, Raphael, primary, Tedeschi, Gioacchino, additional, Kinkel, R. Philip, additional, Trapp, Bruce D., additional, Frank, Joseph A., additional, Kaneski, Christine R., additional, Brady, Roscoe O., additional, Barton, Norman W., additional, Nelson, Lawrence, additional, and Yanovski, Jack A., additional

Published
1997
Full Text
View/download PDF

11. Reply

Author

Alger, Jeffry R., primary, Schiffmann, Raphael, additional, and Barton, Norman W., additional

Published
1994
Full Text
View/download PDF

12. Childhood ataxia with diffuse central nervous system hypomyelination

Author

Schiffmann, Raphael, primary, Moller, Johanna R., additional, Trapp, Bruce D., additional, Shih, Henry H-L., additional, Farrer, Robert G., additional, Katz, David A., additional, Alger, Jeffry R., additional, Parker, Colette C., additional, Hauer, Peter E., additional, Kaneski, Christine R., additional, Heiss, John D., additional, Kaye, Edward M., additional, Quarles, Richard H., additional, Brady, Roscoe O., additional, and Barton, Norman W., additional

Published
1994
Full Text
View/download PDF

14. Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.

Author

Vanderver A, Bernard G, Helman G, Sherbini O, Boeck R, Cohn J, Collins A, Demarest S, Dobbins K, Emrick L, Fraser JL, Masser-Frye D, Hayward J, Karmarkar S, Keller S, Mirrop S, Mitchell W, Pathak S, Sherr E, van Haren K, Waters E, Wilson JL, Zhorne L, Schiffmann R, van der Knaap MS, Pizzino A, Dubbs H, Shults J, Simons C, and Taft RJ

Subjects
Child, Child, Preschool, Cross-Over Studies, Female, Humans, Infant, Male, Prospective Studies, White Matter pathology, Leukoencephalopathies diagnosis, Leukoencephalopathies genetics, Sequence Analysis, DNA methods
Abstract

Objective: Genome sequencing (GS) is promising for unsolved leukodystrophies, but its efficacy has not been prospectively studied., Methods: A prospective time-delayed crossover design trial of GS to assess the efficacy of GS as a first-line diagnostic tool for genetic white matter disorders took place between December 1, 2015 and September 27, 2017. Patients were randomized to receive GS immediately with concurrent standard of care (SoC) testing, or to receive SoC testing for 4 months followed by GS., Results: Thirty-four individuals were assessed at interim review. The genetic origin of 2 patient's leukoencephalopathy was resolved before randomization. Nine patients were stratified to the immediate intervention group and 23 patients to the delayed-GS arm. The efficacy of GS was significant relative to SoC in the immediate (5/9 [56%] vs 0/9 [0%]; Wild-Seber, p < 0.005) and delayed (control) arms (14/23 [61%] vs 5/23 [22%]; Wild-Seber, p < 0.005). The time to diagnosis was significantly shorter in the immediate-GS group (log-rank test, p = 0.04). The overall diagnostic efficacy of combined GS and SoC approaches was 26 of 34 (76.5%, 95% confidence interval = 58.8-89.3%) in <4 months, greater than historical norms of <50% over 5 years. Owing to loss of clinical equipoise, the trial design was altered to a single-arm observational study., Interpretation: In this study, first-line GS provided earlier and greater diagnostic efficacy in white matter disorders. We provide an evidence-based diagnostic testing algorithm to enable appropriate clinical GS utilization in this population. ANN NEUROL 2020;88:264-273., (© 2020 American Neurological Association.)

Published
2020
Full Text
View/download PDF

15. Reply: To PMID 23034915.

Author

Mochel F and Schiffmann R

Subjects
Female, Humans, Male, Glycogen Storage Disease, Magnetic Resonance Imaging, Nervous System Diseases
Published
2013
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results