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Author/Creator Demuth, Stephanie

1. Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. Issue 2 (29th October 2011)

Authors:
Horvath, Rita; Czermin, Birgit; Gulati, Sweena; Demuth, Stephanie; Houge, Gunnar; Pyle, Angela; Dineiger, Christine; Blakely, Emma L; Hassani, Adam; Foley, Charlotte; Brodhun, Michael; Storm, Karin; Kirschner, Janbernd; Gorman, Grainne S; Lochmüller, Hanns; Holinski-Feder, Elke; Taylor, Robert W;...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 83:Issue 2(2012)
Page Start:
174
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients. Issue 2 (10th June 2020)

Authors:
Traschütz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; d...
Journal:
Annals of neurology
Issue:
Volume 88:Issue 2(2020)
Page Start:
251
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Inherited cases of CNOT3‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies. Issue 4 (19th August 2020)

Authors:
Meyer, Robert; Begemann, Matthias; Demuth, Stephanie; Kraft, Florian; Dey, Daniela; Schüler, Herdit; Busse, Sabine; Häusler, Martin; Zerres, Klaus; Kurth, Ingo; Eggermann, Thomas; Elbracht, Miriam
Journal:
Clinical genetics
Issue:
Volume 98:Issue 4(2020)
Page Start:
408
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗