Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

N Bedoni; L Haer-Wigman; V Vaclavik; VH Tran; P Farinelli; S Balzano; B Royer-Bertrand; ME El-Asrag; O Bonny; C Ikonomidis; Y Litzistorf; K Nikopoulos; GG Yioti; MI Stefaniotou; M McKibbin; AP Booth; JM Ellingford; GC Black; C Toomes; CF Inglehearn; CB Hoyng; N Bax; Caroline Klaver; Alberta Thiadens; F Murisier; DF Schorderet; M (Mehabat) Ali; FPM Cremers; S Andreasson; FL Munier; C Rivolta

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

N Bedoni, L Haer-Wigman, V Vaclavik, VH Tran, P Farinelli, S Balzano, B Royer-Bertrand, ME El-Asrag, O Bonny, C Ikonomidis, Y Litzistorf, K Nikopoulos, GG Yioti, MI Stefaniotou, M McKibbin, AP Booth, JM Ellingford, GC Black, C Toomes, CF InglehearnCB Hoyng, N Bax, Caroline Klaver, Alberta Thiadens, F Murisier, DF Schorderet, M (Mehabat) Ali, FPM Cremers, S Andreasson, FL Munier, C Rivolta

Ophthalmology

Research output: Contribution to journal › Article › Academic › peer-review

32 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	4546-4555
Number of pages	10
Journal	Human Molecular Genetics
Volume	25
Issue number	20
Publication status	Published - 2016

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EMC OR-01-60-01

Cite this

Bedoni, N., Haer-Wigman, L., Vaclavik, V., Tran, VH., Farinelli, P., Balzano, S., Royer-Bertrand, B., El-Asrag, ME., Bonny, O., Ikonomidis, C., Litzistorf, Y., Nikopoulos, K., Yioti, GG., Stefaniotou, MI., McKibbin, M., Booth, AP., Ellingford, JM., Black, GC., Toomes, C., ... Rivolta, C. (2016). Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. Human Molecular Genetics, 25(20), 4546-4555.

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title = "Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility",

author = "N Bedoni and L Haer-Wigman and V Vaclavik and VH Tran and P Farinelli and S Balzano and B Royer-Bertrand and ME El-Asrag and O Bonny and C Ikonomidis and Y Litzistorf and K Nikopoulos and GG Yioti and MI Stefaniotou and M McKibbin and AP Booth and JM Ellingford and GC Black and C Toomes and CF Inglehearn and CB Hoyng and N Bax and Caroline Klaver and Alberta Thiadens and F Murisier and DF Schorderet and Ali, {M (Mehabat)} and FPM Cremers and S Andreasson and FL Munier and C Rivolta",

year = "2016",

language = "Undefined/Unknown",

volume = "25",

pages = "4546--4555",

journal = "Human Molecular Genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

number = "20",

}

Bedoni, N, Haer-Wigman, L, Vaclavik, V, Tran, VH, Farinelli, P, Balzano, S, Royer-Bertrand, B, El-Asrag, ME, Bonny, O, Ikonomidis, C, Litzistorf, Y, Nikopoulos, K, Yioti, GG, Stefaniotou, MI, McKibbin, M, Booth, AP, Ellingford, JM, Black, GC, Toomes, C, Inglehearn, CF, Hoyng, CB, Bax, N, Klaver, C , Thiadens, A, Murisier, F, Schorderet, DF, Ali, M, Cremers, FPM, Andreasson, S, Munier, FL & Rivolta, C 2016, 'Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility', Human Molecular Genetics, vol. 25, no. 20, pp. 4546-4555.

TY - JOUR

T1 - Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

AU - Bedoni, N

AU - Haer-Wigman, L

AU - Vaclavik, V

AU - Tran, VH

AU - Farinelli, P

AU - Balzano, S

AU - Royer-Bertrand, B

AU - El-Asrag, ME

AU - Bonny, O

AU - Ikonomidis, C

AU - Litzistorf, Y

AU - Nikopoulos, K

AU - Yioti, GG

AU - Stefaniotou, MI

AU - McKibbin, M

AU - Booth, AP

AU - Ellingford, JM

AU - Black, GC

AU - Toomes, C

AU - Inglehearn, CF

AU - Hoyng, CB

AU - Bax, N

AU - Klaver, Caroline

AU - Thiadens, Alberta

AU - Murisier, F

AU - Schorderet, DF

AU - Ali, M (Mehabat)

AU - Cremers, FPM

AU - Andreasson, S

AU - Munier, FL

AU - Rivolta, C

PY - 2016

Y1 - 2016

M3 - Article

SN - 0964-6906

VL - 25

SP - 4546

EP - 4555

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 20

ER -