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Achleitner, Melanie T.
30  Ergebnisse:
Personensuche X
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1

The phenotypic spectrum of PTCD3 deficiency:

Lace, Baiba ; Faqeih, Eissa ; Kaya, Namik...
JIMD Reports.  , 2024
Link: https://doi.org/10.1002/..
 
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2

PPA1 Deficiency Causes a Deranged Galactose Metabolism Reco..:

Achleitner, Melanie T. ; Jans, Judith J. M. ; Ebner, Laura...
Metabolites.  13 (2023)  11 - p. 1141 , 2023
Link: https://doi.org/10.3390/..
 
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3

A case report: New-onset refractory status epilepticus in a..:

Astner-Rohracher, Alexandra ; Mauritz, Matthias ; Leitinger, Markus...
Frontiers in Neurology.  13 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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4

PPA2-associated sudden cardiac death: extending the clinica..:

Guimier, Anne ; Achleitner, Melanie T. ; Moreau de Bellaing, Anne...
Genetics in Medicine.  24 (2022)  4 - p. 967 , 2022
Link: https://doi.org/10.1016/..
 
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5

Variants in Mitochondrial ATP Synthase Cause Variable Neuro..:

Zech, Michael ; Kopajtich, Robert ; Steinbrücker, Katja...
Annals of Neurology.  91 (2022)  2 - p. 225-237 , 2022
Link: https://doi.org/10.1002/..
 
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6

Pathogenic variants inGCSHencoding the moonlighting H-prote..:

Arribas-Carreira, Laura ; Dallabona, Cristina ; Swanson, Michael A...
Human Molecular Genetics.  32 (2022)  6 - p. 917-933 , 2022
Link: https://doi.org/10.1093/..
 
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7

PPA2-associated sudden cardiac death: extending the clinica..:

Guimier, Anne ; Achleitner, Melanie T. ; Moreau de Bellaing, Anne...
Genetics in Medicine.  23 (2021)  12 - p. 2415-2425 , 2021
Link: https://doi.org/10.1038/..
 
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8

Mutations in HID1 Cause Syndromic Infantile Encephalopathy ..:

Schänzer, Anne ; Achleitner, Melanie T. ; Trümbach, Dietrich...
Annals of Neurology.  90 (2021)  1 - p. 143-158 , 2021
Link: https://doi.org/10.1002/..
 
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9

A case report: New-onset refractory status epilepticus in a..:

Astner-Rohracher, Alexandra ; Mauritz, Matthias ; Leitinger, Markus...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9875587/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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10

Variants in Mitochondrial ATP Synthase Cause Variable Neuro..:

Zech, Michael ; Kopajtich, Robert ; Steinbrücker, Katja...
https://mediatum.ub.tum.de/1654760.  , 2022
Link: https://mediatum.ub.tum...
 
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11

Variants in mitochondrial ATP synthase cause variable neuro..:

Zech, Michael ; Kopajtich, Robert ; Steinbrücker, Katja...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9939050/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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12

Mutations in HID1 Cause Syndromic Infantile Encephalopathy ..:

Schänzer, Anne ; Achleitner, Melanie T ; Trümbach, Dietrich...
Annals of neurology.  , 2021
Link: https://ddd.uab.cat/reco..
 
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13

Mutations in HID1 Cause Syndromic Infantile Encephalopathy ..:

Schänzer, Anne ; Achleitner, Melanie T ; Trümbach, Dietrich...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8351430/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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14

Mutations in HID1 Cause Syndromic Infantile Encephalopathy ..:

Schänzer, Anne ; Achleitner, Melanie T ; Trümbach, Dietrich...
https://jlupub.ub.uni-giessen.de//handle/jlupub/9772.  , 2021
Link: https://jlupub.ub.uni-gi..
 
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15

Mutations in HID1 Cause Syndromic Infantile Encephalopathy ..:

Schänzer, Anne ; Achleitner, Melanie T ; Trümbach, Dietrich...
https://mediatum.ub.tum.de/1618431.  , 2021
Link: https://mediatum.ub.tum...
 
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