Ketogenic diet in ATAD3A mutation carriers may not improve cerebellar atrophy but some clinical features [Letter]

by Finsterer J
Published 2019-08-01

Barth syndrome: mechanisms and management

by Finsterer J
Published 2019-06-01

Mitochondrial disorder caused Charles Darwin's cyclic vomiting syndrome

by Finsterer J, Hayman J
Published 2014-01-01

Psychological morbidity in Leber’s hereditary optic neuropathy depends on phenotypic, social, economic, and genetic factors

by Finsterer J, Zarrouk-Mahjoub S
Published 2017-05-01

Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders

by Finsterer J, Zarrouk-Mahjoub S
Published 2017-10-01

Leber’s hereditary optic neuropathy is multiorgan not mono-organ

by Finsterer J, Zarrouk-Mahjoub S
Published 2016-11-01

Detection of the mutation may guide treatment of heart and muscle in Duchenne muscular dystrophy

by Finsterer J, Zarrouk-Mahjoub S
Published 2016-03-01

Lymphangiopathy in neurofibromatosis 1 manifesting with chylothorax, pericardial effusion, and leg edema

by Finsterer J, Stollberger C, Stubenberger E, Tschakoschian S
Published 2013-09-01

Lift the quilt in case of atrial fibrillation and disc prolapse

by Bastovansky A, Ziegler K, Stöllberger C, Finsterer J
Published 2012-06-01

Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion

by Finsterer J, Stöllberger C, Reining-Festa A, Loewe-Grgurin M, Gencik M
Published 2018-12-01

Female and male carriers of TAZ mutations need to be thoroughly investigated

by Finsterer J, Stollberger C, Bakšienė M, Benušienė E, Morkūnienė A, Ambrozaitytė L, Utkus A, Kučinskas V
Published 2017-12-01