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Journal Article
Keller, Natalie, Mendoza-Ferreira, Natalia, Maroofian, Reza, Chelban, Viorica, Khalil, Youssef 
ORCID: 0000-0001-9025-3017, Mills, Philippa B., Boostani, Reza, Torbati, Paria Najarzadeh, Karimiani, Ehsan Ghayoor, Thiele, Holger ORCID: 0000-0002-0169-998X, Houlden, Henry, Wirth, Brunhilde and Karakaya, Mert
(2020).
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism.
Neuromusc. Disord., 30 (7).
S. 583 - 590.
OXFORD:
PERGAMON-ELSEVIER SCIENCE LTD.
ISSN 1873-2364
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