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Items: 42

1.

Novel MECP2 Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome.

Bernstein U, Demuth S, Puk O, Eichhorn B, Schulz S.

Mol Syndromol. 2019 Jul;10(4):223-228. doi: 10.1159/000501183. Epub 2019 Jul 2.

PMID:
31602196
2.

Pseudo-Chemical Meningitis and the Malignant Transformation of an Epidermoid Cyst.

Demuth S, Lasry DE, Obaid S, Letourneau-Guillon L, Chassé M, Bélanger K, Berthelet F, Bojanowski MW, Keezer MR.

Can J Neurol Sci. 2019 Sep;46(5):642-644. doi: 10.1017/cjn.2019.235. Epub 2019 Jul 30. No abstract available.

PMID:
31232240
3.

The More You Have, The More You Lose: Criminal Justice Involvement, Ascribed Socioeconomic Status, and Achieved SES.

Dennison CR, Demuth S.

Soc Probl. 2018 May;65(2):191-210. doi: 10.1093/socpro/spw056. Epub 2017 Mar 10.

4.

Differences in biocompatibility of microneedles from cyclic olefin polymers with human endothelial and epithelial skin cells.

Schossleitner K, O'Mahony C, Brandstätter S, Haslinger MJ, Demuth S, Fechtig D, Petzelbauer P.

J Biomed Mater Res A. 2019 Mar;107(3):505-512. doi: 10.1002/jbm.a.36565. Epub 2018 Nov 19.

5.

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, Vergano SS, Langley KG, Larsen D, Farwell KD, Tang S, Mroske C, Gallotta I, Di Schiavi E, Della Monica M, Lugli L, Rossi C, Seri M, Cocchi G, Henderson L, Baskin B, Alders M, Mendoza-Londono R, Dupuis L, Nickerson DA, Chong JX; University of Washington Center for Mendelian Genomics, Meeks N, Brown K, Causey T, Cho MT, Demuth S, Digilio MC, Gelb BD, Bamshad MJ, Zenker M, Ahmadian MR, Hennekam RC, Tartaglia M, Mirzaa GM.

Am J Hum Genet. 2018 Feb 1;102(2):309-320. doi: 10.1016/j.ajhg.2017.12.015. Epub 2018 Jan 25.

6.

Clonal relationships of CSF B cells in treatment-naive multiple sclerosis patients.

Eggers EL, Michel BA, Wu H, Wang SZ, Bevan CJ, Abounasr A, Pierson NS, Bischof A, Kazer M, Leitner E, Greenfield AL, Demuth S, Wilson MR, Henry RG, Cree BA, Hauser SL, von Büdingen HC.

JCI Insight. 2017 Nov 16;2(22). pii: 92724. doi: 10.1172/jci.insight.92724. eCollection 2017 Nov 16.

7.

Knowledge as a Service at the Point of Care.

Shellum JL, Freimuth RR, Peters SG, Nishimura RA, Chaudhry R, Demuth SJ, Knopp AL, Miksch TA, Milliner DS.

AMIA Annu Symp Proc. 2017 Feb 10;2016:1139-1148. eCollection 2016.

8.

Cerebellar compartmentation of prion pathogenesis.

Ragagnin A, Ezpeleta J, Guillemain A, Boudet-Devaud F, Haeberlé AM, Demais V, Vidal C, Demuth S, Béringue V, Kellermann O, Schneider B, Grant NJ, Bailly Y.

Brain Pathol. 2018 Mar;28(2):240-263. doi: 10.1111/bpa.12503. Epub 2017 Apr 10.

PMID:
28268246
9.

Suggested Guidelines for the Prescription of Orthotic Services, Device Delivery, Education, and Follow-up Care: A Multidisciplinary White Paper.

Fisk JR, DeMuth S, Campbell J, DiBello T, Esquenazi A, Lin RS, Malas B, McGuigan FX, Fise TF.

Mil Med. 2016 Feb;181(2 Suppl):11-7. doi: 10.7205/MILMED-D-15-00542.

PMID:
26835739
10.

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.

Horn D, Wieczorek D, Metcalfe K, Barić I, Paležac L, Cuk M, Petković Ramadža D, Krüger U, Demuth S, Heinritz W, Linden T, Koenig J, Robinson PN, Krawitz P.

Eur J Hum Genet. 2014 Jun;22(6):762-7. doi: 10.1038/ejhg.2013.241. Epub 2013 Oct 16.

11.

Commentary on "Physical activity and motor function in children and adolescents with neuromuscular disorders".

King BE, Demuth S.

Pediatr Phys Ther. 2013 Winter;25(4):421. doi: 10.1097/PEP.0b013e3182a66acc. No abstract available.

PMID:
24076628
12.

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.

Indrieri A, van Rahden VA, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Zvulunov A, Kutsche K, Zeviani M, Franco B.

Am J Hum Genet. 2012 Nov 2;91(5):942-9. doi: 10.1016/j.ajhg.2012.09.016.

13.

The PEDALS stationary cycling intervention and health-related quality of life in children with cerebral palsy: a randomized controlled trial.

Demuth SK, Knutson LM, Fowler EG.

Dev Med Child Neurol. 2012 Jul;54(7):654-61. doi: 10.1111/j.1469-8749.2012.04321.x. Epub 2012 May 14.

14.

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

Horvath R, Czermin B, Gulati S, Demuth S, Houge G, Pyle A, Dineiger C, Blakely EL, Hassani A, Foley C, Brodhun M, Storm K, Kirschner J, Gorman GS, Lochmüller H, Holinski-Feder E, Taylor RW, Chinnery PF.

J Neurol Neurosurg Psychiatry. 2012 Feb;83(2):174-8. doi: 10.1136/jnnp-2011-301258. Epub 2011 Oct 29.

PMID:
22036850
15.

Secondary mediation and regression analyses of the PTClinResNet database: determining causal relationships among the International Classification of Functioning, Disability and Health levels for four physical therapy intervention trials.

Mulroy SJ, Winstein CJ, Kulig K, Beneck GJ, Fowler EG, DeMuth SK, Sullivan KJ, Brown DA, Lane CJ; Physical Therapy Clinical Research Network.

Phys Ther. 2011 Dec;91(12):1766-79. doi: 10.2522/ptj.20110024. Epub 2011 Oct 14.

PMID:
22003170
16.

A mutation screen in patients with Kabuki syndrome.

Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkühler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B.

Hum Genet. 2011 Dec;130(6):715-24. doi: 10.1007/s00439-011-1004-y. Epub 2011 May 24.

PMID:
21607748
17.

Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism.

Castanet M, Mallya U, Agostini M, Schoenmakers E, Mitchell C, Demuth S, Raymond FL, Schwabe J, Gurnell M, Chatterjee VK.

J Clin Endocrinol Metab. 2010 Aug;95(8):4031-6. doi: 10.1210/jc.2010-0275. Epub 2010 May 19.

PMID:
20484477
18.

Stationary cycling and children with cerebral palsy: case reports for two participants.

Siebert KL, DeMuth SK, Knutson LM, Fowler EG.

Phys Occup Ther Pediatr. 2010 May;30(2):125-38. doi: 10.3109/01942630903578399.

PMID:
20367517
19.

Pediatric endurance and limb strengthening (PEDALS) for children with cerebral palsy using stationary cycling: a randomized controlled trial.

Fowler EG, Knutson LM, Demuth SK, Siebert KL, Simms VD, Sugi MH, Souza RB, Karim R, Azen SP; Physical Therapy Clinical Research Network (PTClinResNet).

Phys Ther. 2010 Mar;90(3):367-81. doi: 10.2522/ptj.20080364. Epub 2010 Jan 21.

PMID:
20093327
20.

Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23).

Tzschach A, Kelbova C, Weidensee S, Peters H, Ropers HH, Ullmann R, Erdogan F, Jurkatis J, Menzel C, Kalscheuer V, Demuth S.

Ophthalmic Genet. 2008 Mar;29(1):37-40. doi: 10.1080/13816810701867615.

PMID:
18363172
21.
22.

Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.

Robinson PN, Neumann LM, Demuth S, Enders H, Jung U, König R, Mitulla B, Müller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S.

Am J Med Genet A. 2005 Jun 15;135(3):251-62.

PMID:
15884042
23.

Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome.

Heinritz W, Moschik A, Kujat A, Spranger S, Heilbronner H, Demuth S, Bier A, Tihanyi M, Mundlos S, Gruenauer-Kloevekorn C, Froster UG.

Heart. 2005 Mar;91(3):383-4. No abstract available.

24.
25.

Maternal UPD 20 in a hyperactive child with severe growth retardation.

Chudoba I, Franke Y, Senger G, Sauerbrei G, Demuth S, Beensen V, Neumann A, Hansmann I, Claussen U.

Eur J Hum Genet. 1999 Jul;7(5):533-40.

26.

Neurogenesis in the central olfactory pathway of adult decapod crustaceans.

Schmidt M, Demuth S.

Ann N Y Acad Sci. 1998 Nov 30;855:277-80.

PMID:
10049222
27.

Effects of electrical stimulation on wound healing in patients with diabetic ulcers.

Baker LL, Chambers R, DeMuth SK, Villar F.

Diabetes Care. 1997 Mar;20(3):405-12.

PMID:
9051395
28.

The pharmacokinetics, antigenicity, and fusion-inhibition activity of RSHZ19, a humanized monoclonal antibody to respiratory syncytial virus, in healthy volunteers.

Everitt DE, Davis CB, Thompson K, DiCicco R, Ilson B, Demuth SG, Herzyk DJ, Jorkasky DK.

J Infect Dis. 1996 Sep;174(3):463-9.

PMID:
8769601
29.

Effect of electrical stimulation waveform on healing of ulcers in human beings with spinal cord injury.

Baker LL, Rubayi S, Villar F, Demuth SK.

Wound Repair Regen. 1996 Jan-Mar;4(1):21-8.

PMID:
17129344
30.

Preclinical pharmacokinetic evaluation of the respiratory syncytial virus-specific reshaped human monoclonal antibody RSHZ19.

Davis CB, Hepburn TW, Urbanski JJ, Kwok DC, Hart TK, Herzyk DJ, Demuth SG, Leland M, Rhodes GR.

Drug Metab Dispos. 1995 Oct;23(10):1028-36.

PMID:
8654189
31.

Evaluation of the protective efficacy of reshaped human monoclonal antibody RSHZ19 against respiratory syncytial virus in cotton rats.

Wyde PR, Moore DK, Hepburn T, Silverman CL, Porter TG, Gross M, Taylor G, Demuth SG, Dillon SB.

Pediatr Res. 1995 Oct;38(4):543-50.

PMID:
8559607
32.

Influenza A subtype cross-protection after immunization of outbred mice with a purified chimeric NS1/HA2 influenza virus protein.

Mbawuike IN, Dillion SB, Demuth SG, Jones CS, Cate TR, Couch RB.

Vaccine. 1994 Nov;12(14):1340-8.

PMID:
7856302
33.

Alternative splicing of dystrophin mRNA complicates carrier determination: report of a DMD family.

Lenk U, Demuth S, Kräft U, Hanke R, Speer A.

J Med Genet. 1993 Mar;30(3):206-9.

34.

Induction of protective class I MHC-restricted CTL in mice by a recombinant influenza vaccine in aluminium hydroxide adjuvant.

Dillon SB, Demuth SG, Schneider MA, Weston CB, Jones CS, Young JF, Scott M, Bhatnaghar PK, LoCastro S, Hanna N.

Vaccine. 1992;10(5):309-18.

PMID:
1349448
35.

[Familial juvenile nephronophthisis--a genetically-caused kidney disease].

Demuth S, August C.

Z Urol Nephrol. 1990 Sep;83(9):505-9. German.

PMID:
2267862
36.

[Familial juvenile nephronophthisis. Pathohistology of a rare genetic disease in three siblings].

August C, Demuth S.

Zentralbl Allg Pathol. 1990;136(4):367-75. German.

PMID:
2402961
37.
38.

Effect of dantrolene sodium on [3H]nitrendipine binding to rat cardiac plasma membranes.

Pong SF, Demuth SM, White RL Jr.

J Pharm Pharmacol. 1985 Nov;37(11):830-2.

PMID:
2867170
39.
40.

Prediction of human analgesic dosages of nonsteroidal anti-inflammatory drugs (NSAIDs) from analgesic ED50 values in mice.

Pong SF, Demuth SM, Kinney CM, Deegan P.

Arch Int Pharmacodyn Ther. 1985 Feb;273(2):212-20.

PMID:
3873924
41.

The effect of ethanol on the fate of mercury vapor inhaled by man.

Hursh JB, Greenwood MR, Clarkson TW, Allen J, Demuth S.

J Pharmacol Exp Ther. 1980 Sep;214(3):520-7.

PMID:
7400960
42.

Central hypoventilation syndrome: experience with bilateral phrenic nerve pacing in 3 neonates.

Hunt CE, Matalon SV, Thompson TR, Demuth S, Loew JM, Liu HM, Mastri A, Burke B.

Am Rev Respir Dis. 1978 Jul;118(1):23-8.

PMID:
354443

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