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Author/Creator Horvath, Rita

3. [11C]PK11195-PET Brain Imaging of the Mitochondrial Translocator Protein in Mitochondrial Disease. (1st June 2021)

Authors:
van den Ameele, Jelle; Hong, Young T.; Manavaki, Roido; Kouli, Antonina; Biggs, Heather; MacIntyre, Zoe; Horvath, Rita; Yu-Wai-Man, Patrick; Reid, Evan; Williams-Gray, Caroline H.; Bullmore, Ed T.; Aigbirhio, Franklin I.; Fryer, Tim D.; Chinnery, Patrick F.
Journal:
Neurology
Issue:
Volume 96:Number 22(2021)
Page Start:
Record Type:
Journal Article
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4. A de novoCSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents. Issue 1 (14th September 2021)

Authors:
Gangfuß, Andrea; Lochmüller, Hanns; Töpf, Ana; O'Heir, Emily; Horvath, Rita; Kölbel, Heike; Schweiger, Bernd; Schara‐Schmidt, Ulrike; Roos, Andreas
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 1(2022)
Page Start:
283
Record Type:
Journal Article
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6. A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs). Issue 1 (27th May 2019)

Authors:
Pareyson, Davide; Stojkovic, Tanya; Reilly, Mary M.; Leonard‐Louis, Sarah; Laurà, Matilde; Blake, Julian; Parman, Yesim; Battaloglu, Esra; Tazir, Meriem; Bellatache, Mounia; Bonello‐Palot, Nathalie; Lévy, Nicolas; Sacconi, Sabrina; Guimarães‐Costa, Raquel; Attarian, Sharham; Latour, Philippe; Sol...
Journal:
Annals of neurology
Issue:
Volume 86:Issue 1(2019)
Page Start:
55
Record Type:
Journal Article
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7. A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies. (19th January 2018)

Authors:
Bartsakoulia, Marina; Pyle, Angela; Troncoso-Chandía, Diego; Vial-Brizzi, Josefa; Paz-Fiblas, Marysol V; Duff, Jennifer; Griffin, Helen; Boczonadi, Veronika; Lochmüller, Hanns; Kleinle, Stephanie; Chinnery, Patrick F; Grünert, Sarah; Kirschner, Janbernd; Eisner, Verónica; Horvath, Rita
Journal:
Human molecular genetics
Issue:
Volume 27:Number 7(2018:Apr. 01)
Page Start:
1186
Record Type:
Journal Article
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8. A randomized, double‐blind trial of triheptanoin for drug‐resistant epilepsy in glucose transporter 1 deficiency syndrome. Issue 7 (21st May 2022)

Authors:
Striano, Pasquale; Auvin, Stéphane; Collins, Abigail; Horvath, Rita; Scheffer, Ingrid E.; Tzadok, Michal; Miller, Ian; Kay Koenig, Mary; Lacy, Adrian; Davis, Ronald; Garcia‐Cazorla, Angela; Saneto, Russell P.; Brandabur, Melanie; Blair, Susan; Koutsoukos, Tony; De Vivo, Darryl
Journal:
Epilepsia
Issue:
Volume 63:Issue 7(2022)
Page Start:
1748
Record Type:
Journal Article
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10. 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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