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August, 2016 / Acta Neuropathol

Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy

E. Volmering
P. Niehusmann
V. Peeva
A. Grote
G. Zsurka
J. Altmüller
P. Nürnberg
A.J. Becker
S. Schoch
C.E. Elger
W.S. Kunz

June, 2016 / J Med Genet

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt

N. Di Donato
T. Neuhann
A.K. Kahlert
B. Klink
K. Hackmann
I. Neuhann
B. Novotna
J. Schallner
C. Krause
I.A. Glass
S.E. Parnell
A. Benet-Pages
A.M. Nissen
W. Berger
J. Altmüller
H. Thiele
B.H.F. Weber
E. Schrock
W.B. Dobyns
A. Bier
A. Rump

December 04, 2014 / Am J Hum Genet

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

N. Ehmke
A. Caliebe
R. Koenig
S.G. Kant
Z. Stark
V. Cormier-Daire
D. Wieczorek
G. Gillessen-Kaesbach
K. Hoff
A. Kawalia
H. Thiele
J. Altmüller
B. Fischer-Zirnsak
A. Knaus
N. Zhu
V. Heinrich
C. Huber
I. Harabula
M. Spielmann
D. Horn
U. Kornak
J. Hecht
P.M. Krawitz
P. Nürnberg
R. Siebert
H. Manzke
S. Mundlos

December, 2014 / Nat Genet

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

October, 2014 / Hum Mutat

Mutation of POC1B in a severe syndromic retinal ciliopathy

B.B. Beck
J.B. Phillips
M.P. Bartram
J. Wegner
M. Thoenes
A. Pannes
J. Sampson
R. Heller
H. Göbel
F. Koerber
A. Neugebauer
A. Hedergott
G. Nürnberg
P. Nürnberg
H. Thiele
J. Altmüller
M.R. Toliat
S. Staubach
K.M. Boycott
E.M. Valente
A.R. Janecke
T. Eisenberger
C. Bergmann
L. Tebbe
Y. Wang
Y. Wu
A.M. Fry
M. Westerfield
U. Wolfrum
H.J. Bolz

October 27, 2014 / J Cell Biol

CLUH regulates mitochondrial biogenesis by binding mRNAs of nuclear-encoded mitochondrial proteins

J. Gao
D. Schatton
P. Martinelli
H. Hansen
D. Pla-Martin
E. Barth
C. Becker
J. Altmueller
P. Frommolt
M. Sardiello
E.I. Rugarli

November 06, 2014 / Am J Hum Genet

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

M.S. Hussain
A. Battaglia
S. Szczepanski
E. Kaygusuz
M.R. Toliat
S. Sakakibara
J. Altmüller
H. Thiele
G. Nürnberg
S. Moosa
G. Yigit
F. Beleggia
S. Tinschert
J. Clayton-Smith
P. Vasudevan
J.E. Urquhart
D. Donnai
A. Fryer
F. Percin
F. Brancati
A. Dobbie
R. Smigiel
G. Gillessen-Kaesbach
B. Wollnik
A.A. Noegel
W.G. Newman
P. Nürnberg

November 15, 2014 / Hum Mol Genet

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

M.A. Khan
V.M. Rupp
M. Orpinell
M.S. Hussain
J. Altmüller
M.O. Steinmetz
C. Enzinger
H. Thiele
W. Höhne
G. Nürnberg
S.M. Baig
M. Ansar
P. Nürnberg
J.B. Vincent
M.R. Speicher
P. Gönczy
C. Windpassinger

September 09, 2014 / BMC Genomics

Deciphering the genetic basis of microcystin tolerance

A. Schwarzenberger
T. Sadler
S. Motameny
K. Ben-Khalifa
P. Frommolt
J. Altmüller
K. Konrad
E. von Elert

July, 2014 / Neurobiol Dis

Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy

B. Dejanovic
D. Lal
C.B. Catarino
S. Arjune
A.A. Belaidi
H. Trucks
C. Vollmar
R. Surges
W.S. Kunz
S. Motameny
J. Altmüller
A. Köhler
B.A. Neubauer
P. Nürnberg
S. Noachtar
G. Schwarz
T. Sander