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Items: 15

1.

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI; EPGEN Study, Ng BG, Freeze HH, Lefeber DJ, Õunap K.

J Inherit Metab Dis. 2019 Jan 12. doi: 10.1002/jimd.12055. [Epub ahead of print]

PMID:
30746764
2.

Atypical cerebral palsy: genomics analysis enables precision medicine.

Matthews AM, Blydt-Hansen I, Al-Jabri B, Andersen J, Tarailo-Graovac M, Price M, Selby K, Demos M, Connolly M, Drögemoller B, Shyr C, Mwenifumbo J, Elliott AM, Lee J, Ghani A, Stöckler S, Salvarinova R, Vallance H, Sinclair G, Ross CJ, Wasserman WW, McKinnon ML, Horvath GA, Goez H, van Karnebeek CD; TIDE BC, United for Metabolic Diseases and the CAUSES Study.

Genet Med. 2018 Dec 13. doi: 10.1038/s41436-018-0376-y. [Epub ahead of print]

PMID:
30542205
3.

The genotypic and phenotypic spectrum of MTO1 deficiency.

O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM.

Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15.

4.

Response to Newman et al.

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Josee Raboisson M, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Zolkipli Cunningham Z, Rahman S, Chinnery PF.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.164. Epub 2017 Oct 26. No abstract available.

PMID:
29215644
5.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.107. Epub 2017 Jul 27. Review.

PMID:
28749475
6.

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.

Lehman A, Thouta S, Mancini GMS, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R; CAUSES Study; EPGEN Study, Guella I, McKenzie MB, Datta A, Connolly MB, Kalkhoran SM, Poburko D, Friedman JM, Farrer MJ, Demos M, Desai S, Claydon T.

Am J Hum Genet. 2017 Jul 6;101(1):65-74. doi: 10.1016/j.ajhg.2017.05.016. Epub 2017 Jun 29.

7.

Case Report.

Datta A, Ferguson A, Simonson C, Zannotto F, Michoulas A, Roland E, Karnebeek CV, Salvarinova R.

J Child Neurol. 2017 Mar;32(4):403-407. doi: 10.1177/0883073816685508. Epub 2017 Jan 6.

PMID:
28056632
8.

The Indicator Amino Acid Oxidation Method with the Use of l-[1-13C]Leucine Suggests a Higher than Currently Recommended Protein Requirement in Children with Phenylketonuria.

Turki A, Ueda K, Cheng B, Giezen A, Salvarinova R, Stockler-Ipsiroglu S, Elango R.

J Nutr. 2017 Feb;147(2):211-217. doi: 10.3945/jn.116.240218. Epub 2017 Jan 4.

PMID:
28053173
9.

Exome Sequencing and the Management of Neurometabolic Disorders.

Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van Allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD.

N Engl J Med. 2016 Jun 9;374(23):2246-55. doi: 10.1056/NEJMoa1515792. Epub 2016 May 25.

10.

Recessive ITPA mutations cause an early infantile encephalopathy.

Kevelam SH, Bierau J, Salvarinova R, Agrawal S, Honzik T, Visser D, Weiss MM, Salomons GS, Abbink TE, Waisfisz Q, van der Knaap MS.

Ann Neurol. 2015 Oct;78(4):649-58. doi: 10.1002/ana.24496. Epub 2015 Aug 21.

PMID:
26224535
11.

Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride.

Stockler-Ipsiroglu S, Yuskiv N, Salvarinova R, Apatean D, Ho G, Cheng B, Giezen A, Lillquist Y, Ueda K.

Mol Genet Metab. 2015 Mar;114(3):409-14. doi: 10.1016/j.ymgme.2014.11.014. Epub 2014 Dec 3.

12.

Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities.

Salvarinova R, Ye CX, Rossi A, Biancheri R, Roland EH, Pavlidis P, Ross CJ, Tarailo-Graovac M, Wasserman WW, van Karnebeek CD.

Neurogenetics. 2015 Apr;16(2):145-9. doi: 10.1007/s10048-014-0432-y. Epub 2014 Nov 30.

PMID:
25432320
13.

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.

van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, Shyr C, Horvath GA, Eydoux P, Lehman AM, Bernard V, Newlove T, Ukpeh H, Chakrapani A, Preece MA, Ball S, Pitt J, Vallance HD, Coulter-Mackie M, Nguyen H, Zhang LH, Bhavsar AP, Sinclair G, Waheed A, Wasserman WW, Stockler-Ipsiroglu S.

Am J Hum Genet. 2014 Mar 6;94(3):453-61. doi: 10.1016/j.ajhg.2014.01.006. Epub 2014 Feb 13.

14.

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.

Dias C, McDonald A, Sincan M, Rupps R, Markello T, Salvarinova R, Santos RF, Menghrajani K, Ahaghotu C, Sutherland DP, Fortuno ES 3rd, Kollmann TR, Demos M, Friedman JM, Speert DP, Gahl WA, Boerkoel CF.

Eur J Hum Genet. 2013 Nov;21(11):1232-9. doi: 10.1038/ejhg.2013.20. Epub 2013 Feb 27.

15.

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy.

Al-Thihli K, Ebrahim H, Hughes DA, Patel M, Tipple M, Salvarinova R, Gardiner J, Vallance H, Waters PJ.

Gene. 2012 Apr 15;497(2):320-2. doi: 10.1016/j.gene.2012.01.056. Epub 2012 Jan 31.

PMID:
22336178

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