The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Merkevicius K, Smirnov D, Schlieben LD, Ganetzky R, Feichtinger RG, Jiang H, Fang F, Ebihara T, Murayama K, Ferrera G, Ardissone A, Rokicki D, Wesol-Kucharska D, Schröder S, Bauer P, Bertoli-Avella A, Østergaard E, Freisinger P, Janssen MCH, Wagner M, Abouyousef O, Alhaddad B, AlAbdi L, Alkuraya F, Alston CL, Baghdasaryan A, Barca D, Barić I, Bellusci M, Bevot A, Boltshauser E, Borggraefe I, Bouchereau J, Bruno C, Burnyte B, Calhoun A, Casas K, Coker M, Crushell E, De Lonlay P, Dionisi-Vici C, Distelmaier F, Falk MJ, Ferreira AC, Ferreira CR, Ficicioglu C, Gokçay GF, Häberle J, Heath O, Hellenschmidt A, Hoefele J, Hoffmann GF, Honzik T, Huemer M, Janeiro P, Karaa A, Kasapkara ÇS, Kern I, Klepper J, Klopstock T, Knerr I, Koch J, Krumina Z, Lamperti C, Lebigot E, Liu Z, Maier EM, Martinelli D, McFarland R, Mendelsohn B, Molnar MJ, Mundy H, Nassogne MC, Oliveira A, Õunap K, Panicucci C, Parikh S, Peters H, Pichard S, Plecko B, Ramadža DP, Repetto GM, Rivera I, Rodenburg RJ, Rossi A, Schiff M, Seidemann K, Smith WE, Soares S, Siri B, Steinbrucker K, Striano P, Sykut-Cegielska J, Tal G, Taylor RW, Tsiakas K, Kalkan Ucar S, Hoytema van Konijnenburg E, Woidy M, Yaplito-Lee J, Yildiz Y, Zenker M, Zsidegh P, Westphal D, Sperl W, Meitinger T, Brown GK, Prokisch H, Mayr JA, Wortmann SB

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DOI: 10.1093/brain/awaf430
Published: 2026 Jul 7
Container: Brain : a journal of neurology
Publisher: Not recorded
Open access: yes

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BibTeX

@article{allodium:10.1093/brain/awaf430,
  title = {The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.},
  author = {Merkevicius K and Smirnov D and Schlieben LD and Ganetzky R and Feichtinger RG and Jiang H and Fang F and Ebihara T and Murayama K and Ferrera G and Ardissone A and Rokicki D and Wesol-Kucharska D and Schröder S and Bauer P and Bertoli-Avella A and Østergaard E and Freisinger P and Janssen MCH and Wagner M and Abouyousef O and Alhaddad B and AlAbdi L and Alkuraya F and Alston CL and Baghdasaryan A and Barca D and Barić I and Bellusci M and Bevot A and Boltshauser E and Borggraefe I and Bouchereau J and Bruno C and Burnyte B and Calhoun A and Casas K and Coker M and Crushell E and De Lonlay P and Dionisi-Vici C and Distelmaier F and Falk MJ and Ferreira AC and Ferreira CR and Ficicioglu C and Gokçay GF and Häberle J and Heath O and Hellenschmidt A and Hoefele J and Hoffmann GF and Honzik T and Huemer M and Janeiro P and Karaa A and Kasapkara ÇS and Kern I and Klepper J and Klopstock T and Knerr I and Koch J and Krumina Z and Lamperti C and Lebigot E and Liu Z and Maier EM and Martinelli D and McFarland R and Mendelsohn B and Molnar MJ and Mundy H and Nassogne MC and Oliveira A and Õunap K and Panicucci C and Parikh S and Peters H and Pichard S and Plecko B and Ramadža DP and Repetto GM and Rivera I and Rodenburg RJ and Rossi A and Schiff M and Seidemann K and Smith WE and Soares S and Siri B and Steinbrucker K and Striano P and Sykut-Cegielska J and Tal G and Taylor RW and Tsiakas K and Kalkan Ucar S and Hoytema van Konijnenburg E and Woidy M and Yaplito-Lee J and Yildiz Y and Zenker M and Zsidegh P and Westphal D and Sperl W and Meitinger T and Brown GK and Prokisch H and Mayr JA and Wortmann SB},
  year = {2026},
  journal = {Brain : a journal of neurology},
  doi = {10.1093/brain/awaf430},
  url = {https://doi.org/10.1093/brain/awaf430}
}

RIS

TY  - JOUR
TI  - The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
AU  - Merkevicius K
AU  - Smirnov D
AU  - Schlieben LD
AU  - Ganetzky R
AU  - Feichtinger RG
AU  - Jiang H
AU  - Fang F
AU  - Ebihara T
AU  - Murayama K
AU  - Ferrera G
AU  - Ardissone A
AU  - Rokicki D
AU  - Wesol-Kucharska D
AU  - Schröder S
AU  - Bauer P
AU  - Bertoli-Avella A
AU  - Østergaard E
AU  - Freisinger P
AU  - Janssen MCH
AU  - Wagner M
AU  - Abouyousef O
AU  - Alhaddad B
AU  - AlAbdi L
AU  - Alkuraya F
AU  - Alston CL
AU  - Baghdasaryan A
AU  - Barca D
AU  - Barić I
AU  - Bellusci M
AU  - Bevot A
AU  - Boltshauser E
AU  - Borggraefe I
AU  - Bouchereau J
AU  - Bruno C
AU  - Burnyte B
AU  - Calhoun A
AU  - Casas K
AU  - Coker M
AU  - Crushell E
AU  - De Lonlay P
AU  - Dionisi-Vici C
AU  - Distelmaier F
AU  - Falk MJ
AU  - Ferreira AC
AU  - Ferreira CR
AU  - Ficicioglu C
AU  - Gokçay GF
AU  - Häberle J
AU  - Heath O
AU  - Hellenschmidt A
AU  - Hoefele J
AU  - Hoffmann GF
AU  - Honzik T
AU  - Huemer M
AU  - Janeiro P
AU  - Karaa A
AU  - Kasapkara ÇS
AU  - Kern I
AU  - Klepper J
AU  - Klopstock T
AU  - Knerr I
AU  - Koch J
AU  - Krumina Z
AU  - Lamperti C
AU  - Lebigot E
AU  - Liu Z
AU  - Maier EM
AU  - Martinelli D
AU  - McFarland R
AU  - Mendelsohn B
AU  - Molnar MJ
AU  - Mundy H
AU  - Nassogne MC
AU  - Oliveira A
AU  - Õunap K
AU  - Panicucci C
AU  - Parikh S
AU  - Peters H
AU  - Pichard S
AU  - Plecko B
AU  - Ramadža DP
AU  - Repetto GM
AU  - Rivera I
AU  - Rodenburg RJ
AU  - Rossi A
AU  - Schiff M
AU  - Seidemann K
AU  - Smith WE
AU  - Soares S
AU  - Siri B
AU  - Steinbrucker K
AU  - Striano P
AU  - Sykut-Cegielska J
AU  - Tal G
AU  - Taylor RW
AU  - Tsiakas K
AU  - Kalkan Ucar S
AU  - Hoytema van Konijnenburg E
AU  - Woidy M
AU  - Yaplito-Lee J
AU  - Yildiz Y
AU  - Zenker M
AU  - Zsidegh P
AU  - Westphal D
AU  - Sperl W
AU  - Meitinger T
AU  - Brown GK
AU  - Prokisch H
AU  - Mayr JA
AU  - Wortmann SB
PY  - 2026
JO  - Brain : a journal of neurology
DO  - 10.1093/brain/awaf430
UR  - https://doi.org/10.1093/brain/awaf430
ER  -

APA

K, M., D, S., LD, S., R, G., RG, F., H, J., F, F., T, E., K, M., G, F., A, A., D, R., D, W., S, S., P, B., A, B., E, Ø., P, F., MCH, J., M, W., O, A., B, A., L, A., F, A., CL, A., A, B., D, B., I, B., M, B., A, B., E, B., I, B., J, B., C, B., B, B., A, C., K, C., M, C., E, C., P, D. L., C, D., F, D., MJ, F., AC, F., CR, F., C, F., GF, G., J, H., O, H., A, H., J, H., GF, H., T, H., M, H., P, J., A, K., ÇS, K., I, K., J, K., T, K., I, K., J, K., Z, K., C, L., E, L., Z, L., EM, M., D, M., R, M., B, M., MJ, M., H, M., MC, N., A, O., K, Õ., C, P., S, P., H, P., S, P., B, P., DP, R., GM, R., I, R., RJ, R., A, R., M, S., K, S., WE, S., S, S., B, S., K, S., P, S., J, S., G, T., RW, T., K, T., S, K. U., E, H. V. K., M, W., J, Y., Y, Y., M, Z., P, Z., D, W., W, S., T, M., GK, B., H, P., JA, M., & SB, W. (2026). The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.. Brain : a journal of neurology. https://doi.org/10.1093/brain/awaf430

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pubmed · retrieved 2026-09-26T14:48:39.769Z