|
🐜
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Genetic diagnosis of Mendelian disorders via RNA sequencing
32 auth.
Laura S. Kremer,
Daniel M Bader,
Christian Mertes,
R. Kopajtich,
G. Pichler,
A. Iuso,
T. Haack,
E. Graf,
T. Schwarzmayr,
Caterina Terrile,
E. Koňaříková,
B. Repp,
G. Kastenmüller,
J. Adamski,
P. Lichtner,
...
Christoph Leonhardt,
B. Funalot,
A. Donati,
V. Tiranti,
A. Lombès,
C. Jardel,
D. Gläser,
Robert W. Taylor,
D. Ghezzi,
J. Mayr,
A. Rötig,
P. Freisinger,
F. Distelmaier,
T. Strom,
T. Meitinger,
J. Gagneur,
H. Prokisch
|
8 |
2017 |
8
🐜
|
|
🐜
|
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
19 auth.
T. Haack,
K. Danhauser,
Birgit Haberberger,
Jonathan Hoser,
Valentina Strecker,
D. Boehm,
G. Uziel,
E. Lamantea,
F. Invernizzi,
J. Poulton,
...
B. Rolinski,
A. Iuso,
S. Biskup,
Thorsten Schmidt,
H. Mewes,
I. Wittig,
T. Meitinger,
M. Zeviani,
H. Prokisch
|
8 |
2010 |
8
🐜
|
|
🐜
|
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
25 auth.
Monika B Hartig,
A. Iuso,
T. Haack,
T. Kmieć,
E. Jurkiewicz,
K. Heim,
S. Roeber,
V. Tarabin,
S. Dusi,
M. Krajewska-Walasek,
S. Jóźwiak,
M. Hempel,
J. Winkelmann,
M. Elstner,
K. Oexle,
...
T. Klopstock,
W. Mueller-Felber,
T. Gasser,
C. Trenkwalder,
V. Tiranti,
H. Kretzschmar,
G. Schmitz,
T. Strom,
T. Meitinger,
H. Prokisch
|
7 |
2011 |
7
🐜
|
|
🐜
|
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
25 auth.
C. Kornblum,
T. Nicholls,
T. Haack,
Susanne Schöler,
V. Peeva,
K. Danhauser,
K. Hallmann,
G. Zsurka,
J. Rorbach,
A. Iuso,
T. Wieland,
M. Sciacco,
D. Ronchi,
G. Comi,
M. Moggio,
...
C. Quinzii,
S. Dimauro,
S. Calvo,
V. Mootha,
T. Klopstock,
T. Strom,
T. Meitinger,
M. Minczuk,
W. Kunz,
H. Prokisch
|
7 |
2013 |
7
🐜
|
|
🐜
|
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
28 auth.
T. Haack,
Birgit Haberberger,
Eva-Maria Frisch,
T. Wieland,
A. Iuso,
M. Gorza,
Valentina Strecker,
E. Graf,
J. Mayr,
U. Herberg,
J. Hennermann,
T. Klopstock,
K. Kuhn,
U. Ahting,
W. Sperl,
...
E. Wilichowski,
G. Hoffmann,
M. Tesařová,
H. Hansíková,
J. Zeman,
B. Plecko,
M. Zeviani,
I. Wittig,
T. Strom,
M. Schuelke,
P. Freisinger,
T. Meitinger,
H. Prokisch
|
7 |
2012 |
7
🐜
|
|
🦁
|
Dysfunctions of Cellular Oxidative Metabolism in Patients with Mutations in the NDUFS1 and NDUFS4 Genes of Complex I*
11 auth.
A. Iuso,
S. Scacco,
C. Piccoli,
F. Bellomo,
V. Petruzzella,
R. Trentadue,
...
M. Minuto,
M. Ripoli,
N. Capitanio,
M. Zeviani,
S. Papa
|
7 |
2006 |
7
🦁
|
|
🐜
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Monogenic variants in dystonia: an exome-wide sequencing study
111 auth.
M. Zech,
R. Jech,
S. Boesch,
M. Škorvánek,
Sandrina Weber,
M. Wagner,
Chen Zhao,
A. Jochim,
J. Necpál,
Yasemin Dincer,
K. Vill,
F. Distelmaier,
M. Stoklosa,
M. Krenn,
S. Grunwald,
...
T. Bock-Bierbaum,
A. Fečíková,
P. Havránková,
J. Roth,
I. Příhodová,
Miriam Adamovičová,
O. Ulmanová,
K. Bechyně,
P. Danhofer,
Branislav Veselý,
V. Han,
P. Pavelekova,
Z. Gdovinová,
Tobias Mantel,
Tobias Meindl,
A. Sitzberger,
S. Schröder,
A. Blaschek,
T. Roser,
Michaela V. Bonfert,
E. Haberlandt,
B. Plecko,
Birgit Leineweber,
S. Berweck,
T. Herberhold,
B. Langguth,
J. Švantnerová,
M. Minár,
Gonzalo Alonso Ramos-Rivera,
M. Wojcik,
S. Pajusalu,
K. Õunap,
U. Schatz,
L. Pölsler,
I. Milenkovic,
F. Laccone,
V. Pilshofer,
R. Colombo,
S. Patzer,
A. Iuso,
Julia Vera,
M. Troncoso,
Fang Fang,
H. Prokisch,
Friederike Wilbert,
M. Eckenweiler,
E. Graf,
D. Westphal,
K. Riedhammer,
T. Brunet,
B. Alhaddad,
Riccardo Berutti,
T. Strom,
M. Hecht,
M. Baumann,
M. Wolf,
A. Telegrafi,
R. Person,
Francisca Millan Zamora,
Lindsay B. Henderson,
D. Weise,
T. Musacchio,
J. Volkmann,
Anna Szuto,
J. Becker,
K. Cremer,
T. Sycha,
F. Zimprich,
V. Kraus,
C. Makowski,
P. Gonzalez-Alegre,
T. Bardakjian,
L. Ozelius,
A. Vetro,
R. Guerrini,
E. Maier,
I. Borggraefe,
A. Kuster,
S. Wortmann,
A. Hackenberg,
R. Steinfeld,
B. Assmann,
C. Staufner,
T. Opladen,
E. Růžička,
R. Cohn,
D. Dyment,
W. Chung,
H. Engels,
A. Ceballos-Baumann,
R. Płoski,
O. Daumke,
B. Haslinger,
V. Mall,
K. Oexle,
J. Winkelmann
|
7 |
2020 |
7
🐜
|
|
🐜
|
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy
10 auth.
J. Koch,
R. Feichtinger,
P. Freisinger,
Mechthild Pies,
F. Schrödl,
A. Iuso,
...
W. Sperl,
J. Mayr,
H. Prokisch,
T. Haack
|
6 |
2016 |
6
🐜
|
|
🐜
|
Mitochondrial Respiratory Dysfunction in Familiar Parkinsonism Associated with PINK1 Mutation
14 auth.
C. Piccoli,
A. Sardanelli,
R. Scrima,
M. Ripoli,
G. Quarato,
A. D’Aprile,
F. Bellomo,
S. Scacco,
G. Michele,
A. Filla,
...
A. Iuso,
D. Boffoli,
N. Capitanio,
S. Papa
|
6 |
2008 |
6
🐜
|
|
🐜
|
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
33 auth.
T. Haack,
Erika Ignatius,
Javier Calvo-Garrido,
A. Iuso,
P. Isohanni,
Camilla Maffezzini,
T. Lönnqvist,
A. Suomalainen,
M. Gorza,
Laura S. Kremer,
E. Graf,
Monika B Hartig,
Riccardo Berutti,
M. Paucar,
P. Svenningsson,
...
H. Stranneheim,
G. Brandberg,
A. Wedell,
M. Kurian,
S. Hayflick,
P. Venco,
V. Tiranti,
T. Strom,
M. Dichgans,
R. Horvath,
E. Holinski-Feder,
Christoph Freyer,
T. Meitinger,
H. Prokisch,
J. Senderek,
A. Wredenberg,
C. Carroll,
T. Klopstock
|
6 |
2016 |
6
🐜
|
|
🐜
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Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9
26 auth.
T. Haack,
Florence Madignier,
M. Herzer,
E. Lamantea,
K. Danhauser,
F. Invernizzi,
J. Koch,
M. Freitag,
R. Drost,
I. Hillier,
Birgit Haberberger,
J. Mayr,
U. Ahting,
V. Tiranti,
A. Rötig,
...
A. Iuso,
R. Horvath,
M. Tesařová,
I. Barić,
G. Uziel,
B. Rolinski,
W. Sperl,
T. Meitinger,
M. Zeviani,
P. Freisinger,
H. Prokisch
|
6 |
2011 |
6
🐜
|
