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Connection

Michael J Gonzalez to Mutation

This is a "connection" page, showing publications Michael J Gonzalez has written about Mutation.
Connection Strength

0.781
  1. Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Sch?le R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, N?meth AH, Carelli V, Huang T, Zuchner S, Dallman JE. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet. 2015 Aug; 47(8):926-32.
    View in: PubMed
    Score: 0.092
  2. Strickland AV, Schabh?ttl M, Offenbacher H, Synofzik M, Hauser NS, Brunner-Krainz M, Gruber-Sedlmayr U, Moore SA, Windhager R, Bender B, Harms M, Klebe S, Young P, Kennerson M, Garcia AS, Gonzalez MA, Z?chner S, Schule R, Shy ME, Auer-Grumbach M. Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1. J Neurol. 2015 Sep; 262(9):2124-34.
    View in: PubMed
    Score: 0.092
  3. Griffin LB, Sakaguchi R, McGuigan D, Gonzalez MA, Searby C, Z?chner S, Hou YM, Antonellis A. Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. Hum Mutat. 2014 Nov; 35(11):1363-71.
    View in: PubMed
    Score: 0.088
  4. Gonzalez MA, Feely SM, Speziani F, Strickland AV, Danzi M, Bacon C, Lee Y, Chou TF, Blanton SH, Weihl CC, Zuchner S, Shy ME. A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. Brain. 2014 Nov; 137(Pt 11):2897-902.
    View in: PubMed
    Score: 0.086
  5. Bonifert T, Karle KN, Tonagel F, Batra M, Wilhelm C, Theurer Y, Schoenfeld C, Kluba T, Kamenisch Y, Carelli V, Wolf J, Gonzalez MA, Speziani F, Sch?le R, Z?chner S, Sch?ls L, Wissinger B, Synofzik M. Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier. Brain. 2014 Aug; 137(Pt 8):2164-77.
    View in: PubMed
    Score: 0.086
  6. Caballero Oteyza A, Battaloglu E, Ocek L, Lindig T, Reichbauer J, Rebelo AP, Gonzalez MA, Zorlu Y, Ozes B, Timmann D, Bender B, Woehlke G, Z?chner S, Sch?ls L, Sch?le R. Motor protein mutations cause a new form of hereditary spastic paraplegia. Neurology. 2014 Jun 03; 82(22):2007-16.
    View in: PubMed
    Score: 0.085
  7. Dolzhanskaya N, Gonzalez MA, Sperziani F, Stefl S, Messing J, Wen GY, Alexov E, Zuchner S, Velinov M. A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. J Alzheimers Dis. 2014; 39(1):23-7.
    View in: PubMed
    Score: 0.083
  8. Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Z?chner S, Muntoni F, Houlden H. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain. 2014 Jan; 137(Pt 1):44-56.
    View in: PubMed
    Score: 0.082
  9. Gonzalez MA, Tachibana KE, Chin SF, Callagy G, Madine MA, Vowler SL, Pinder SE, Laskey RA, Coleman N. Geminin predicts adverse clinical outcome in breast cancer by reflecting cell-cycle progression. J Pathol. 2004 Oct; 204(2):121-30.
    View in: PubMed
    Score: 0.044
  10. Pottier C, Ravenscroft TA, Brown PH, Finch NA, Baker M, Parsons M, Asmann YW, Ren Y, Christopher E, Levitch D, van Blitterswijk M, Cruchaga C, Campion D, Nicolas G, Richard AC, Guerreiro R, Bras JT, Zuchner S, Gonzalez MA, Bu G, Younkin S, Knopman DS, Josephs KA, Parisi JE, Petersen RC, Ertekin-Taner N, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R. TYROBP genetic variants in early-onset Alzheimer's disease. Neurobiol Aging. 2016 12; 48:222.e9-222.e15.
    View in: PubMed
    Score: 0.025
  11. Martin E, Sch?le R, Smets K, Rastetter A, Boukhris A, Loureiro JL, Gonzalez MA, Mundwiller E, Deconinck T, Wessner M, Jornea L, Oteyza AC, Durr A, Martin JJ, Sch?ls L, Mhiri C, Lamari F, Z?chner S, De Jonghe P, Kabashi E, Brice A, Stevanin G. Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. Am J Hum Genet. 2013 Feb 07; 92(2):238-44.
    View in: PubMed
    Score: 0.019
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.
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