24 Einträge gefunden

1. A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2

   1. Chepurwar, Shashank
   2. von Loh, Sarah M
   3. Wigger, Daniela C
   4. Neef, Jakob
   5. Frommolt, Peter
   6. Beutner, Dirk
   7. Lang-Roth, Ruth

   2023 - Forschungsinformationssystem des UKE
2. Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study

   1. Rosenbohm, Angela
   2. Pott, Hendrik
   3. Thomsen, Mirja
   4. Rafehi, Haloom
   5. Kaya, Sabine
   6. Szymczak, Silke
   7. Volk, Alexander E

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
3. Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia

   1. Jandl, Nico Maximilian
   2. Schmidt, Tobias
   3. Rolvien, Tim
   4. Stürznickel, Julian
   5. Chrysostomou, Konstantin
   6. von Vopelius, Emil
   7. Volk, Alexander E

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
4. Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design

   1. Blomen, Chiara L
   2. Pott, Aliaksandra
   3. Volk, Alexander E
   4. Budäus, Lars
   5. Witzel, Isabell

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
5. Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism

   1. Volk, Alexander E
   2. Hedergott, Andrea
   3. Preising, Markus
   4. Rading, Sebastian
   5. Fricke, Julia
   6. Herkenrath, Peter
   7. Nürnberg, Peter

   2021 - Forschungsinformationssystem des UKE
6. Clinico-genetic findings in 509 frontotemporal dementia patients

   1. Wagner, Matias
   2. Lorenz, Georg
   3. Volk, Alexander E
   4. Brunet, Theresa
   5. Edbauer, Dieter
   6. Berutti, Riccardo
   7. Zhao, Chen

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
7. Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2

   1. Kloth, Katja
   2. Neu, Axel
   3. Rau, Isabella
   4. Hülsemann, Wiebke
   5. Kutsche, Kerstin
   6. Volk, Alexander E

   2021 - Forschungsinformationssystem des UKE
8. Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome

   1. Schoof, Melanie
   2. Kordes, Uwe
   3. Volk, Alexander E
   4. Al-Kershi, Sina
   5. Kresbach, Catena
   6. Schüller, Ulrich

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
9. Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family

   1. Niemeyer, Elisabeth
   2. Mofid, Hamid
   3. Zornig, Carsten
   4. Burandt, Eike-Christian
   5. Stein, Alexander
   6. Block, Andreas
   7. Volk, Alexander E

   2020 - Forschungsinformationssystem des UKE
10. SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden

    1. Yilmaz, Rüstem
    2. Müller, Kathrin
    3. Brenner, David
    4. Volk, Alexander E
    5. Borck, Guntram
    6. Hermann, Andreas
    7. Meitinger, Thomas

    2020 - Forschungsinformationssystem des UKE
11. Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase

    1. Oeckl, Patrick
    2. Weydt, Patrick
    3. Steinacker, Petra
    4. Anderl-Straub, Sarah
    5. Nordin, Frida
    6. Volk, Alexander E
    7. Diehl-Schmid, Janine

    2019 - Forschungsinformationssystem des UKE
12. Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

    1. Andersen, Peter M
    2. Nordström, Ulrika
    3. Tsiakas, Konstantinos
    4. Johannsen, Jessika
    5. Volk, Alexander E
    6. Bierhals, Tatjana
    7. Zetterström, Per

    2019 - Forschungsinformationssystem des UKE
13. The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy

    1. Rosenbohm, Angela
    2. Hirsch, Susanne
    3. Volk, Alexander E
    4. Grehl, Torsten
    5. Grosskreutz, Julian
    6. Hanisch, Frank
    7. Herrmann, Andreas

    2018 - Forschungsinformationssystem des UKE
14. Comprehensive analysis of the mutation spectrum in 301 German ALS families

    1. Müller, Kathrin
    2. Brenner, David
    3. Weydt, Patrick
    4. Meyer, Thomas
    5. Grehl, Torsten
    6. Petri, Susanne
    7. Grosskreutz, Julian

    2018 - Forschungsinformationssystem des UKE
15. Specific serum and CSF microRNA profiles distinguish sporadic behavioural variant of frontotemporal dementia compared with Alzheimer patients and cognitively healthy controls

    1. Denk, Johannes
    2. Oberhauser, Felix
    3. Kornhuber, Johannes
    4. Wiltfang, Jens
    5. Fassbender, Klaus
    6. Schroeter, Matthias L
    7. Volk, Alexander E

    2018 - Forschungsinformationssystem des UKE - frei zugänglich
16. Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis

    1. Volk, Alexander E
    2. Weishaupt, Jochen H
    3. Andersen, Peter M
    4. Ludolph, Albert C
    5. Kubisch, Christian

    2018 - Forschungsinformationssystem des UKE
17. A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction

    1. Fazeli, Walid
    2. Herkenrath, Peter
    3. Stiller, Barbara
    4. Neugebauer, Antje
    5. Fricke, Julia
    6. Lang-Roth, Ruth
    7. Nürnberg, Gudrun

    2017 - Forschungsinformationssystem des UKE
18. The rapid evolution of molecular genetic diagnostics in neuromuscular diseases

    1. Volk, Alexander E
    2. Kubisch, Christian

    2017 - Forschungsinformationssystem des UKE
19. AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance

    1. Lang-Roth, Ruth
    2. Fischer-Krall, Eva
    3. Kornblum, Cornelia
    4. Nürnberg, Gudrun
    5. Meschede, Dieter
    6. Goebel, Ingrid
    7. Nürnberg, Peter

    2017 - Forschungsinformationssystem des UKE
20. Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD

    1. Lehmer, Carina
    2. Oeckl, Patrick
    3. Weishaupt, Jochen H
    4. Volk, Alexander E
    5. Diehl-Schmid, Janine
    6. Schroeter, Matthias L
    7. Lauer, Martin

    2017 - Forschungsinformationssystem des UKE - frei zugänglich