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Items: 1 to 20 of 292

1.

Genome sequencing in persistently unsolved white matter disorders.

Helman G, Lajoie BR, Crawford J, Takanohashi A, Walkiewicz M, Dolzhenko E, Gross AM, Gainullin VG, Bent SJ, Jenkinson EM, Ferdinandusse S, Waterham HR, Dorboz I, Bertini E, Miyake N, Wolf NI, Abbink TEM, Kirwin SM, Tan CM, Hobson GM, Guo L, Ikegawa S, Pizzino A, Schmidt JL, Bernard G, Schiffmann R, van der Knaap MS, Simons C, Taft RJ, Vanderver A.

Ann Clin Transl Neurol. 2020 Jan;7(1):144-152. doi: 10.1002/acn3.50957. Epub 2020 Jan 7.

2.

Unique molecular signature in mucolipidosis type IV microglia.

Cougnoux A, Drummond RA, Fellmeth M, Navid F, Collar AL, Iben J, Kulkarni AB, Pickel J, Schiffmann R, Wassif CA, Cawley NX, Lionakis MS, Porter FD.

J Neuroinflammation. 2019 Dec 28;16(1):276. doi: 10.1186/s12974-019-1672-4.

3.

Variation in cognitive function over time in Gaucher disease type 3.

Steward AM, Wiggs E, Lindstrom T, Ukwuani S, Ryan E, Tayebi N, Roshan Lal T, Lopez G, Schiffmann R, Sidransky E.

Neurology. 2019 Dec 10;93(24):e2272-e2283. doi: 10.1212/WNL.0000000000008618. Epub 2019 Nov 12.

PMID:
31719137
4.

Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort.

Nowak A, Huynh-Do U, Krayenbuehl PA, Beuschlein F, Schiffmann R, Barbey F.

J Inherit Metab Dis. 2019 Aug 26. doi: 10.1002/jimd.12167. [Epub ahead of print]

PMID:
31449323
5.

Symptoms and Quality of Life in Patients with Fabry Disease: Results from an International Patient Survey.

Morand O, Johnson J, Walter J, Atkinson L, Kline G, Frey A, Politei J, Schiffmann R.

Adv Ther. 2019 Oct;36(10):2866-2880. doi: 10.1007/s12325-019-01061-x. Epub 2019 Aug 21.

6.

The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease.

Schiffmann R, Bichet DG, Benjamin E, Wu X, Giugliani R.

Mol Genet Metab Rep. 2019 Jul 19;20:100494. doi: 10.1016/j.ymgmr.2019.100494. eCollection 2019 Sep. No abstract available.

7.

Diagnosis, prognosis, and treatment of leukodystrophies.

van der Knaap MS, Schiffmann R, Mochel F, Wolf NI.

Lancet Neurol. 2019 Oct;18(10):962-972. doi: 10.1016/S1474-4422(19)30143-7. Epub 2019 Jul 12. Review.

PMID:
31307818
8.

Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Mochel F, Delorme C, Czernecki V, Froger J, Cormier F, Ellie E, Fegueux N, Lehéricy S, Lumbroso S, Schiffmann R, Aubourg P, Roze E, Labauge P, Nguyen S.

J Neurol Neurosurg Psychiatry. 2019 Dec;90(12):1375-1376. doi: 10.1136/jnnp-2019-320701. Epub 2019 Jun 18. No abstract available.

PMID:
31213485
9.

The glycosylation design space for recombinant lysosomal replacement enzymes produced in CHO cells.

Tian W, Ye Z, Wang S, Schulz MA, Van Coillie J, Sun L, Chen YH, Narimatsu Y, Hansen L, Kristensen C, Mandel U, Bennett EP, Jabbarzadeh-Tabrizi S, Schiffmann R, Shen JS, Vakhrushev SY, Clausen H, Yang Z.

Nat Commun. 2019 Apr 30;10(1):1785. doi: 10.1038/s41467-019-09809-3.

10.

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination.

Saint-Val L, Courtin T, Charles P, Verny C, Catala M, Schiffmann R, Boespflug-Tanguy O, Mochel F.

AJNR Am J Neuroradiol. 2019 May;40(5):788-791. doi: 10.3174/ajnr.A6036. Epub 2019 Apr 25.

11.

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.

Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MRDS, Simons C, Ishikawa K, Ikegawa S.

Am J Hum Genet. 2019 May 2;104(5):925-935. doi: 10.1016/j.ajhg.2019.03.004. Epub 2019 Apr 11.

12.

Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter.

van der Knaap MS, Fogli A, Boespflug-Tanguy O, Abbink TEM, Schiffmann R.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2003 Feb 20 [updated 2019 Apr 4].

13.

Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study.

Hughes DA, Nicholls K, Sunder-Plassmann G, Jovanovic A, Feldt-Rasmussen U, Schiffmann R, Giugliani R, Jain V, Viereck C, Castelli JP, Skuban N, Barth JA, Bichet DG.

Am J Med Genet A. 2019 Jun;179(6):1069-1073. doi: 10.1002/ajmg.a.61105. Epub 2019 Mar 28. No abstract available.

14.

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

Choquet K, Forget D, Meloche E, Dicaire MJ, Bernard G, Vanderver A, Schiffmann R, Fabian MR, Teichmann M, Coulombe B, Brais B, Kleinman CL.

J Biol Chem. 2019 May 3;294(18):7445-7459. doi: 10.1074/jbc.RA118.006271. Epub 2019 Mar 21.

15.

Dystonia in RNA Polymerase III-Related Leukodystrophy.

Al Yazidi G, Tran LT, Guerrero K, Vanderver A, Schiffmann R, Wolf NI, Chouinard S, Bernard G.

Mov Disord Clin Pract. 2019 Jan 9;6(2):155-159. doi: 10.1002/mdc3.12715. eCollection 2019 Feb.

16.

Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial.

Schiffmann R, Goker-Alpan O, Holida M, Giraldo P, Barisoni L, Colvin RB, Jennette CJ, Maegawa G, Boyadjiev SA, Gonzalez D, Nicholls K, Tuffaha A, Atta MG, Rup B, Charney MR, Paz A, Szlaifer M, Alon S, Brill-Almon E, Chertkoff R, Hughes D.

J Inherit Metab Dis. 2019 May;42(3):534-544. doi: 10.1002/jimd.12080. Epub 2019 Apr 8.

PMID:
30834538
17.

Cerebrotendinous xanthomatosis: The rare "treatable" disease you never consider.

Raymond GV, Schiffmann R.

Neurology. 2019 Jan 8;92(2):61-62. doi: 10.1212/WNL.0000000000006721. Epub 2018 Dec 7. No abstract available.

PMID:
30530794
18.

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

Mirchi A, Pelletier F, Tran LT, Keller S, Braverman N, Tonduti D, Vanderver A, Pizzino A, Dilenge ME, Poulin C, Shevell M, Majnemer A, Sébire G, Srour M, Osterman B, Boucher RM, Vanasse M, Rossignol E, Mitchell J, Venkateswaran S, Pohl D, Kauffman M, Schiffmann R, Goizet C, Moutton S, Roncarolo F, Bernard G.

Pediatr Neurol. 2018 Jul;84:21-26. doi: 10.1016/j.pediatrneurol.2018.03.015. Epub 2018 Apr 9.

PMID:
29859719
19.

Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial.

Schiffmann R, Bichet DG, Jovanovic A, Hughes DA, Giugliani R, Feldt-Rasmussen U, Shankar SP, Barisoni L, Colvin RB, Jennette JC, Holdbrook F, Mulberg A, Castelli JP, Skuban N, Barth JA, Nicholls K.

Orphanet J Rare Dis. 2018 Apr 27;13(1):68. doi: 10.1186/s13023-018-0813-7.

20.

Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings.

Bremova-Ertl T, Schiffmann R, Patterson MC, Belmatoug N, Billette de Villemeur T, Bardins S, Frenzel C, Malinová V, Naumann S, Arndt J, Mengel E, Reinke J, Strobl R, Strupp M.

Front Neurol. 2018 Jan 15;8:711. doi: 10.3389/fneur.2017.00711. eCollection 2017.

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