C Paketci

Affiliations

Department of Paediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir, Turkey. Electronic address: paketci@hotmail.com.

Publications (6)

Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.

American journal of medical genetics. Part A

Avec: Mert Karakaya , Cem Paketci , Janine Altmueller , Holger Thiele , Irmgard Hoelker , Uluc Yis , Brunhilde Wirth

Herpes simplex virus-1 as a rare etiology of isolated acute cerebellitis: case report and literature review.

Journal of neurovirology

Avec: Cem Paketci , Pinar Edem , Canan Okumus , Fatma Ceren Sarioglu , Erhan Bayram , Semra Hiz , Uluç Yis

Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG.

Brain & development

Avec: C Paketci , P Edem , S Hiz , E Sonmezler , D Soydemir , G Sarikaya Uzan , Y Oktay , E O'Heir , S Beltran , S Laurie , A Töpf , H Lochmuller , R Horvath , U Yis

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

European journal of medical genetics

Avec: Natalie Keller , Cem Paketci , Pinar Edem , Holger Thiele , Uluc Yis , Brunhilde Wirth , Mert Karakaya

Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies.

Revue neurologique

Avec: C Paketci , M Karakaya , P Edem , E Bayram , N Keller , H-S Daimagüler , S Cirak , A Jordanova , S Hiz , B Wirth , U Yiş

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

Human mutation

Avec: Natalie Keller , Cem Paketci , Janine Altmueller , Nico Fuhrmann , Gilbert Wunderlich , Bertold Schrank , Olcay Unver , Sanem Yilmaz , Reza Boostani , Ehsan Ghayoor Karimiani , Susanne Motameny , Holger Thiele , Peter Nürnberg , Reza Maroofian , Uluc Yis , Brunhilde Wirth , Mert Karakaya

Réseau de co-auteurs

Cem Paketci 4 collaborations

Mert Karakaya 3 collaborations

Holger Thiele 3 collaborations

Uluc Yis 3 collaborations

Brunhilde Wirth 3 collaborations

Janine Altmueller 2 collaborations

Pinar Edem 2 collaborations

P Edem 2 collaborations

S Hiz 2 collaborations

Natalie Keller 2 collaborations

Irmgard Hoelker 1 collaboration

Canan Okumus 1 collaboration

Fatma Ceren Sarioglu 1 collaboration

Erhan Bayram 1 collaboration

Semra Hiz 1 collaboration

Uluç Yis 1 collaboration

E Sonmezler 1 collaboration

D Soydemir 1 collaboration

G Sarikaya Uzan 1 collaboration

Y Oktay 1 collaboration

E O'Heir 1 collaboration

S Beltran 1 collaboration

S Laurie 1 collaboration

A Töpf 1 collaboration

H Lochmuller 1 collaboration

R Horvath 1 collaboration

U Yis 1 collaboration

M Karakaya 1 collaboration

E Bayram 1 collaboration

N Keller 1 collaboration

H-S Daimagüler 1 collaboration

S Cirak 1 collaboration

A Jordanova 1 collaboration

B Wirth 1 collaboration

U Yiş 1 collaboration

Nico Fuhrmann 1 collaboration

Gilbert Wunderlich 1 collaboration

Bertold Schrank 1 collaboration

Olcay Unver 1 collaboration

Sanem Yilmaz 1 collaboration

Reza Boostani 1 collaboration

Ehsan Ghayoor Karimiani 1 collaboration

Susanne Motameny 1 collaboration

Peter Nürnberg 1 collaboration

Reza Maroofian 1 collaboration