E-LIB Suche - Ergebnisse für: Auer-Grumbach, Michaela

1

A polymorphic AT-repeat causes frequent allele dropout for ..:

Høyer, Helle ; Hilmarsen, Hilde T ; Sunder-Plassmann, Raute...
Journal of Medical Genetics. 59 (2022) 10 - p. 1024-1026 , 2022

Link: https://doi.org/10.1136/..

2

Genetic pain loss disorders:

Lischka, Annette ; Lassuthova, Petra ; Çakar, Arman...
Nature Reviews Disease Primers. 8 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

3

ATTR amyloidosis during the COVID-19 pandemic: insights fro..:

Brannagan III, Thomas H. ; Auer-Grumbach, Michaela ; Berk, John L....
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

4

SORD NEUROPATHY: GENE IDENTIFICATION AND PROPOSAL FOR A FOL..:

Cortese, Andrea ; Dohrn, Maike ; Zhu, Yi...
Neurology. 96 (2021) 15_supplement - p. , 2021

Link: https://doi.org/10.1212/..

5

Convolutional Neural Networks for Fully Automated Diagnosis..:

Agibetov, Asan ; Kammerlander, Andreas ; Duca, Franz...
Journal of Personalized Medicine. 11 (2021) 12 - p. 1268 , 2021

Link: https://doi.org/10.3390/..

6

Charcot-Marie-Tooth disease and hereditary motor neuropathi..:

Rudnik-Schöneborn, Sabine ; Auer-Grumbach, Michaela ; Senderek, Jan
Medizinische Genetik. 32 (2020) 3 - p. 207-219 , 2020

Link: https://doi.org/10.1515/..

7

Chance or challenge, spoilt for choice? New recommendations..:

Dohrn, Maike F. ; Auer-Grumbach, Michaela ; Baron, Ralf...
Journal of Neurology. 268 (2020) 10 - p. 3610-3625 , 2020

Link: https://doi.org/10.1007/..

8

Hereditary ATTR Amyloidosis in Austria: Prevalence and Epid..:

Auer-Grumbach, Michaela ; Rettl, Rene ; Ablasser, Klemens...
Journal of Clinical Medicine. 9 (2020) 7 - p. 2234 , 2020

Link: https://doi.org/10.3390/..

9

Diagnosis and treatment of cardiac amyloidosis: an interdis..:

Bonderman, Diana ; Pölzl, Gerhard ; Ablasser, Klemens...
Wiener klinische Wochenschrift. 132 (2020) 23-24 - p. 742-761 , 2020

Link: https://doi.org/10.1007/..

10

Neuropathy-causing mutations in HSPB1 impair autophagy by d..:

Haidar, Mansour ; Asselbergh, Bob ; Adriaenssens, Elias...
Autophagy. 15 (2019) 6 - p. 1051-1068 , 2019

Link: https://doi.org/10.1080/..

11

Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 ..:

Wu, Jingxia ; Ma, Sicong ; Sandhoff, Roger...
Immunity. 50 (2019) 5 - p. 1218-1231.e5 , 2019

Link: https://doi.org/10.1016/..

12

FAHN/SPG35: a narrow phenotypic spectrum across disease cla..:

Rattay, Tim W ; Lindig, Tobias ; Baets, Jonathan...
Brain. 142 (2019) 6 - p. 1561-1572 , 2019

Link: https://doi.org/10.1093/..

13

Linkage analysis and whole exome sequencing reveals AHNAK2 ..:

Tey, Shelisa ; Shahrizaila, Nortina ; Drew, Alexander P....
neurogenetics. 20 (2019) 3 - p. 117-127 , 2019

Link: https://doi.org/10.1007/..

14

Development and validation of a TTR-specific copy number sc..:

Jahic, Amir ; Bock, Andrea ; Duca, Franz...
Molecular and Cellular Probes. 41 (2018) - p. 61-63 , 2018

Link: https://doi.org/10.1016/..

15

Mutant HSPB1 causes loss of translational repression by bin..:

Geuens, Thomas ; De Winter, Vicky ; Rajan, Nicholas...
Acta Neuropathologica Communications. 5 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..