Klopstock, T;Abicht, A;Meitinger, T
Mitochondrial Diseases
Med. Genet.
2012
24
3
160-161

Buechner, B;Gallenmueller, C;Lautenschlaeger, R;Kuhn, K;Wittig, I;Schoels, L;Rapaport, D;Seelow, D;Freisinger, P;Prokisch, H;Sperl, W;Wenz, T;Behl, C;Deschauer, M;Kornblum, C;Schneiderat, P;Abicht, A;Schuelke, M;Meitinger, T;Klopstock, T
The German Network for Mitochondrial Disorders (mitoNET)
Med. Genet.
2012
24
3
193-199

Ahting, U;Haack, TB;Haberberger, B;Mayr, JA;Zimmermann, F;Schum, J;Strecker, V;Graf, E;Hoppen, T;Wittig, I;Strom, T;Meitinger, T;Prokisch, H;Sperl, W;Freisinger, P;Rolinski, B
MULTIPLE MITOCHONDRIAL DYSFUNCTION SYNDROME CAUSED BY A MUTATION IN BOLA3
J Inherit Metab Dis
2012
35 1
S14-S14

Deschauer, M;Gaul, C;Behrmann, C;Prokisch, H;Zierz, S;Haack, TB
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.
J Neurol
2012
259
11
2434-9

Sharma, M;Ioannidis, JP;Aasly, JO;Annesi, G;Brice, A;Bertram, L;Bozi, M;Barcikowska, M;Crosiers, D;Clarke, CE;Facheris, MF;Farrer, M;Garraux, G;Gispert, S;Auburger, G;Vilarino-Guell, C;Hadjigeorgiou, GM;Hicks, AA;Hattori, N;Jeon, BS;Jamrozik, Z;Krygowska-Wajs, A;Lesage, S;Lill, CM;Lin, JJ;Lynch, T;Lichtner, P;Lang, AE;Libioulle, C;Murata, M;Mok, V;Jasinska-Myga, B;Mellick, GD;Morrison, KE;Meitnger, T;Zimprich, A;Opala, G;Pramstaller, PP;Pichler, I;Park, SS;Quattrone, A;Rogaeva, E;Ross, OA;Stefanis, L;Stockton, JD;Satake, W;Silburn, PA;Strom, TM;Theuns, J;Tan, EK;Toda, T;Tomiyama, H;Uitti, RJ;Van Broeckhoven, C;Wirdefeldt, K;Wszolek, Z;Xiromerisiou, G;Yomono, HS;Yueh, KC;Zhao, Y;Gasser, T;Maraganore, D;Kruger, R
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.
J Med Genet
2012
49
11
721-6

Klopocki, E;Lohan, S;Doelken, SC;Stricker, S;Ockeloen, CW;Soares Thiele de Aguiar, R;Lezirovitz, K;Mingroni Netto, RC;Jamsheer, A;Shah, H;Kurth, I;Habenicht, R;Warman, M;Devriendt, K;Kordass, U;Hempel, M;Rajab, A;Mäkitie, O;Naveed, M;Radhakrishna, U;Antonarakis, SE;Horn, D;Mundlos, S
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
J Med Genet
2012
49
2
119-25

van den Bosch, BJ;Gerards, M;Sluiter, W;Stegmann, AP;Jongen, EL;Hellebrekers, DM;Oegema, R;Lambrichs, EH;Prokisch, H;Danhauser, K;Schoonderwoerd, K;de Coo, IF;Smeets, HJ
Defective NDUFA9 as a novel cause of neonatally fatal complex I disease.
J Med Genet
2012
49
1
10-5

Haack, TB;Madignier, F;Herzer, M;Lamantea, E;Danhauser, K;Invernizzi, F;Koch, J;Freitag, M;Drost, R;Hillier, I;Haberberger, B;Mayr, JA;Ahting, U;Tiranti, V;Rötig, A;Iuso, A;Horvath, R;Tesarova, M;Baric, I;Uziel, G;Rolinski, B;Sperl, W;Meitinger, T;Zeviani, M;Freisinger, P;Prokisch, H
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
J Med Genet
2012
49
2
83-9

Haberberger, BM;Freisinger, P;Strecker, V;Ahting, U;Rolinski, B;Mayr, J;Sperl, W;Wittig, I;Meitinger, T;Prokisch, H
BEZAFIBRATE AS TREATMENT OPTION IN PATIENTS WITH MITOCHONDRIAL COMPLEX-I DEFICIENCY
J Inherit Metab Dis
2012
35 1
S15-S15

Bonfig, W;Salem, NJ;Heiliger, K;Hempel, M;Lederer, G;Bornkamm, M;Wieland, K;Lohse, P;Burdach, S;Oexle, K
Recurrent hypoglycemia due to growth hormone deficiency in an infant with Turner syndrome.
J Pediatr Endocrinol Metab
2012
25
9-10
991-5