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Results: 1 to 20 of 377

1.

Important Role of Translational Science in Rare Disease Innovation, Discovery, and Drug Development.

Pariser AR, Gahl WA.

J Gen Intern Med. 2014 Jul 17. [Epub ahead of print]

PMID:
25029971
[PubMed - as supplied by publisher]
2.

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.

Renvoisé B, Chang J, Singh R, Yonekawa S, FitzGibbon EJ, Mankodi A, Vanderver A, Schindler A, Toro C, Gahl WA, Mahuran DJ, Blackstone C, Pierson TM.

Ann Clin Transl Neurol. 2014 Jun 1;1(6):379-389.

PMID:
24999486
[PubMed]
3.

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.

Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, Huang Y, Vega H, Snyder JP, Golas GA, Tifft CJ, Boerkoel CF, Hanson RW, Traynelis SF, Kerr DS, Gahl WA.

Mol Genet Metab. 2014 Apr 13. pii: S1096-7192(14)00126-7. doi: 10.1016/j.ymgme.2014.04.001. [Epub ahead of print]

PMID:
24863970
[PubMed - as supplied by publisher]
4.

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.

Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman C, Tankovic A, Karamchandani MM, Schreiber JM, Mullikin JC; PhD for the NISC Comparative Sequencing Program, Tifft CJ, Toro C, Boerkoel CF, Traynelis SF, Gahl WA.

Ann Clin Transl Neurol. 2014 Mar 1;1(3):190-198.

PMID:
24839611
[PubMed]
5.

Mutation Update for GNE Gene Variants Associated with GNE Myopathy.

Celeste FV, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M.

Hum Mutat. 2014 Aug;35(8):915-26. doi: 10.1002/humu.22583.

PMID:
24796702
[PubMed - in process]
6.

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.

Lawrence L, Sincan M, Markello T, Adams DR, Gill F, Godfrey R, Golas G, Groden C, Landis D, Nehrebecky M, Park G, Soldatos A, Tifft C, Toro C, Wahl C, Wolfe L, Gahl WA, Boerkoel CF.

Genet Med. 2014 May 1. doi: 10.1038/gim.2014.29. [Epub ahead of print]

PMID:
24784157
[PubMed - as supplied by publisher]
7.

Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.

Lam C, Gallo LK, Dineen R, Ciccone C, Dorward H, Hoganson GE, Wolfe L, Gahl WA, Huizing M.

Mol Genet Metab Rep. 2014 Jan 1;1:114-123.

PMID:
24749080
[PubMed]
8.

GNE myopathy: new name and new mutation nomenclature.

Huizing M, Carrillo-Carrasco N, Malicdan MC, Noguchi S, Gahl WA, Mitrani-Rosenbaum S, Argov Z, Nishino I.

Neuromuscul Disord. 2014 May;24(5):387-9. doi: 10.1016/j.nmd.2014.03.004. Epub 2014 Mar 13. No abstract available.

PMID:
24685570
[PubMed - in process]
9.

Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.

Yuan H, Hansen KB, Zhang J, Pierson TM, Markello TC, Fajardo KV, Holloman CM, Golas G, Adams DR, Boerkoel CF, Gahl WA, Traynelis SF.

Nat Commun. 2014;5:3251. doi: 10.1038/ncomms4251.

PMID:
24504326
[PubMed - in process]
10.

Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.

Klootwijk ED, Reichold M, Helip-Wooley A, Tolaymat A, Broeker C, Robinette SL, Reinders J, Peindl D, Renner K, Eberhart K, Assmann N, Oefner PJ, Dettmer K, Sterner C, Schroeder J, Zorger N, Witzgall R, Reinhold SW, Stanescu HC, Bockenhauer D, Jaureguiberry G, Courtneidge H, Hall AM, Wijeyesekera AD, Holmes E, Nicholson JK, O'Brien K, Bernardini I, Krasnewich DM, Arcos-Burgos M, Izumi Y, Nonoguchi H, Jia Y, Reddy JK, Ilyas M, Unwin RJ, Gahl WA, Warth R, Kleta R.

N Engl J Med. 2014 Jan 9;370(2):129-38. doi: 10.1056/NEJMoa1307581.

PMID:
24401050
[PubMed - indexed for MEDLINE]
Free Article
11.

Non-specific accumulation of glycosphingolipids in GNE myopathy.

Patzel KA, Yardeni T, Le Poëc-Celic E, Leoyklang P, Dorward H, Alonzi DS, Kukushkin NV, Xu B, Zhang Y, Sollogoub M, Blériot Y, Gahl WA, Huizing M, Butters TD.

J Inherit Metab Dis. 2014 Mar;37(2):297-308. doi: 10.1007/s10545-013-9655-6. Epub 2013 Oct 18.

PMID:
24136589
[PubMed - in process]
12.

Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis.

Cullinane AR, Yeager C, Dorward H, Carmona-Rivera C, Wu HP, Moss J, O'Brien KJ, Nathan SD, Meyer KC, Rosas IO, Helip-Wooley A, Huizing M, Gahl WA, Gochuico BR.

Am J Respir Cell Mol Biol. 2014 Mar;50(3):605-13. doi: 10.1165/rcmb.2013-0025OC.

PMID:
24134621
[PubMed - indexed for MEDLINE]
13.

Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.

Lim YH, Ovejero D, Sugarman JS, Deklotz CM, Maruri A, Eichenfield LF, Kelley PK, Jüppner H, Gottschalk M, Tifft CJ, Gafni RI, Boyce AM, Cowen EW, Bhattacharyya N, Guthrie LC, Gahl WA, Golas G, Loring EC, Overton JD, Mane SM, Lifton RP, Levy ML, Collins MT, Choate KA.

Hum Mol Genet. 2014 Jan 15;23(2):397-407. doi: 10.1093/hmg/ddt429. Epub 2013 Sep 4.

PMID:
24006476
[PubMed - in process]
14.

Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.

Leoyklang P, Suphapeetiporn K, Srichomthong C, Tongkobpetch S, Fietze S, Dorward H, Cullinane AR, Gahl WA, Huizing M, Shotelersuk V.

Hum Genet. 2013 Dec;132(12):1383-93. doi: 10.1007/s00439-013-1345-9. Epub 2013 Aug 8.

PMID:
23925499
[PubMed - indexed for MEDLINE]
15.

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.

Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Dürr A, Stevanin G, Biesecker LG; NIH Intramural Sequencing Center, Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W Jr, Züchner S, Blackstone C, Fischbeck KH, Burnett BG.

Hum Mutat. 2013 Oct;34(10):1357-60. doi: 10.1002/humu.22378. Epub 2013 Aug 12.

PMID:
23857908
[PubMed - indexed for MEDLINE]
16.

Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China.

Duan X, Markello T, Adams D, Toro C, Tifft C, Gahl WA, Boerkoel CF.

Front Med. 2013 Sep;7(3):389-94. doi: 10.1007/s11684-013-0281-3. Epub 2013 Jul 15.

PMID:
23856975
[PubMed - indexed for MEDLINE]
17.

Hermansky-Pudlak syndrome: health care throughout life.

Seward SL Jr, Gahl WA.

Pediatrics. 2013 Jul;132(1):153-60. doi: 10.1542/peds.2012-4003. Epub 2013 Jun 10. Review.

PMID:
23753089
[PubMed - indexed for MEDLINE]
Free Article
18.

A congenital neutrophil defect syndrome associated with mutations in VPS45.

Vilboux T, Lev A, Malicdan MC, Simon AJ, Järvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, Soudack M, Atawneh OM, Babushkin T, Schiby G, Cullinane A, Avivi C, Polak-Charcon S, Barshack I, Amariglio N, Rechavi G, van der Werff ten Bosch J, Anikster Y, Klein C, Gahl WA, Somech R.

N Engl J Med. 2013 Jul 4;369(1):54-65. doi: 10.1056/NEJMoa1301296. Epub 2013 Jun 5.

PMID:
23738510
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Glucose transporter-1 distribution in fibrotic lung disease: association with [¹⁸F]-2-fluoro-2-deoxyglucose-PET scan uptake, inflammation, and neovascularization.

El-Chemaly S, Malide D, Yao J, Nathan SD, Rosas IO, Gahl WA, Moss J, Gochuico BR.

Chest. 2013 Jun;143(6):1685-91. doi: 10.1378/chest.12-1359.

PMID:
23699745
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

FDG PET images in a patient with Erdheim-Chester disease.

Sioka C, Estrada-Veras J, Maric I, Gahl WA, Chen CC.

Clin Nucl Med. 2014 Feb;39(2):170-7. doi: 10.1097/RLU.0b013e31828da5e6.

PMID:
23640213
[PubMed - in process]

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