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Karakaya, Mert, Paketci, Cem 
ORCID: 0000-0003-3587-6830, Altmueller, Janine, Thiele, Holger, Hoelker, Irmgard, Yis, Uluc and Wirth, Brunhilde ORCID: 0000-0003-4051-5191
(2019).
Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.
Am. J. Med. Genet. A, 179 (8).
S. 1580 - 1585.
HOBOKEN:
WILEY.
ISSN 1552-4833
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