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Keller, Natalie, Paketci, Cem, Altmueller, Janine, Fuhrmann, Nico, Wunderlich, Gilbert, Schrank, Bertold, Unver, Olcay, Yilmaz, Sanem, Boostani, Reza, Karimiani, Ehsan Ghayoor, Motameny, Susanne, Thiele, Holger, Nuernberg, Peter, Maroofian, Reza, Yis, Uluc, Wirth, Brunhilde 
ORCID: 0000-0003-4051-5191 and Karakaya, Mert
(2021).
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Hum. Mutat., 42 (4).
S. 460 - 473.
HOBOKEN:
WILEY.
ISSN 1098-1004
Keller, Natalie, Paketci, Cem, Edem, Pinar, Thiele, Holger, Yis, Uluc, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Karakaya, Mert
(2021).
De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy.
Eur. J. Med. Genet., 64 (2).
AMSTERDAM:
ELSEVIER.
ISSN 1878-0849
Petry-Schmelzer, Jan Niklas ORCID: 0000-0003-0749-3840, Keller, Natalie, Karakaya, Mert, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Fink, Gereon R. ORCID: 0000-0002-8230-1856 and Wunderlich, Gilbert
(2021).
VPS13D: One Family, Same Mutations, Two Phenotypes.
MOV. DISORD. CLIN. PRACT., 8 (5).
S. 803 - 807.
HOBOKEN:
WILEY.
ISSN 2330-1619