Suchergebnisse - "Karakaya, Mert"

PubPharm (47)

1

Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Armirola-Ricaurte, C. | Zonnekein, N. | Koutsis, G. | +20

2

Proteomic Investigation of Differential Interactomes of Glypican 1 and a Putative Disease-Modifying Variant of Ataxia

enthalten in: Journal of proteome research | 2023

von Cengiz Winter, N. | Karakaya, M. | Mosen, P. | +5

3

Ecology of fear in highly invasive fish revealed by robots

enthalten in: iScience | 2022

von Polverino, G. | Soman, V. | Karakaya, M. | +3

4

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

enthalten in: American journal of human genetics | 2021

von Ghosh, S. | Becker, K. | Huang, H. | +37

ErratumFor: Am J Hum Genet. 2018 Sep 6;103(3):431-439. - PMID 30100084

5

VPS13D : One Family, Same Mutations, Two Phenotypes

enthalten in: Movement disorders clinical practice | 2021

von Petry-Schmelzer, J. | Keller, N. | Karakaya, M. | +3

6

Acute Citalopram administration modulates anxiety in response to the context associated with a robotic stimulus in zebrafish

enthalten in: Progress in neuro-psychopharmacology & biological psychiatry | 2021

von Karakaya, M. | Scaramuzzi, A. | Macrì, S. | +1

7

Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease

enthalten in: Human mutation | 2021

von Keller, N. | Paketci, C. | Altmueller, J. | +14

8

Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies

enthalten in: European journal of neurology | 2021

von Chen, Z. | Maroofian, R. | Başak, A. | +22

CommentIn: Eur J Neurol. 2021 Apr;28(4):1106-1107. - PMID 33492783

9

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

enthalten in: Brain : a journal of neurology | 2021

von Pagnamenta, A. | Kaiyrzhanov, R. | Zou, Y. | +133

CommentIn: Brain. 2021 Mar 3;144(2):362-365. - PMID 33693694

10

De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy

enthalten in: European journal of medical genetics | 2021

von Keller, N. | Paketci, C. | Edem, P. | +4

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