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Autor/in
- Volk, Alexander E
- Kubisch, Christian 8
- Andersen, Peter M 6
- Weishaupt, Jochen H 5
- Müller, Kathrin 4
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Sprache
- Englisch 24
24 Einträge gefunden
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A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2
- Chepurwar, Shashank
- von Loh, Sarah M
- Wigger, Daniela C
- Neef, Jakob
- Frommolt, Peter
- Beutner, Dirk
- Lang-Roth, Ruth
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Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study
- Rosenbohm, Angela
- Pott, Hendrik
- Thomsen, Mirja
- Rafehi, Haloom
- Kaya, Sabine
- Szymczak, Silke
- Volk, Alexander E
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Clinico-genetic findings in 509 frontotemporal dementia patients
- Wagner, Matias
- Lorenz, Georg
- Volk, Alexander E
- Brunet, Theresa
- Edbauer, Dieter
- Berutti, Riccardo
- Zhao, Chen
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Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design
2021 - Forschungsinformationssystem des UKE - frei zugänglich -
Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2
2021 - Forschungsinformationssystem des UKE -
Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome
2021 - Forschungsinformationssystem des UKE - frei zugänglich -
Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia
- Jandl, Nico Maximilian
- Schmidt, Tobias
- Rolvien, Tim
- Stürznickel, Julian
- Chrysostomou, Konstantin
- von Vopelius, Emil
- Volk, Alexander E
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SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden
- Yilmaz, Rüstem
- Müller, Kathrin
- Brenner, David
- Volk, Alexander E
- Borck, Guntram
- Hermann, Andreas
- Meitinger, Thomas
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Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
- Andersen, Peter M
- Nordström, Ulrika
- Tsiakas, Konstantinos
- Johannsen, Jessika
- Volk, Alexander E
- Bierhals, Tatjana
- Zetterström, Per
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Comprehensive analysis of the mutation spectrum in 301 German ALS families
- Müller, Kathrin
- Brenner, David
- Weydt, Patrick
- Meyer, Thomas
- Grehl, Torsten
- Petri, Susanne
- Grosskreutz, Julian
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Specific serum and CSF microRNA profiles distinguish sporadic behavioural variant of frontotemporal dementia compared with Alzheimer patients and cognitively healthy controls
- Denk, Johannes
- Oberhauser, Felix
- Kornhuber, Johannes
- Wiltfang, Jens
- Fassbender, Klaus
- Schroeter, Matthias L
- Volk, Alexander E
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Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis
2018 - Forschungsinformationssystem des UKE -
The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy
- Rosenbohm, Angela
- Hirsch, Susanne
- Volk, Alexander E
- Grehl, Torsten
- Grosskreutz, Julian
- Hanisch, Frank
- Herrmann, Andreas
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A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction
- Fazeli, Walid
- Herkenrath, Peter
- Stiller, Barbara
- Neugebauer, Antje
- Fricke, Julia
- Lang-Roth, Ruth
- Nürnberg, Gudrun
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Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD
- Lehmer, Carina
- Oeckl, Patrick
- Weishaupt, Jochen H
- Volk, Alexander E
- Diehl-Schmid, Janine
- Schroeter, Matthias L
- Lauer, Martin