A. Potic

发表

Cardiac phenotype in ATP1A3-related syndromes

I. Scheffer, S. Sisodiya, M. Thom, 2020, Neurology.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

A. Vanderver, R. Schiffmann, D. Timmann, 2020, The Journal of clinical endocrinology and metabolism.

4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations.

R. Schiffmann, B. Brais, G. Bernard, 2012, Archives of neurology.

OBSERVATION 4 H Syndrome With Late-Onset Growth Hormone Deficiency Caused by POLR 3 A Mutations

R. Schiffmann, B. Brais, G. Bernard, 2012 .

Childhood Cerebral X-Linked Adrenoleukodystrophy More Than 5 Years After Hematopoietic Cell Transplantation: The First Case From Serbia and Southeastern Europe

G. Uziel, V. Milic-Rasic, D. Kozic, 2010, Journal of child neurology.

Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant

A. Pavlovic, G. Uziel, J. Ostojić, 2013, Journal of Neurology.

Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy

R. Schiffmann, J. Ostojić, G. Bernard, 2015, BMC Neurology.

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene

M. Zeviani, E. Lamantea, L. Morandi, 2016, Molecular genetics and metabolism reports.

CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation

Quasar S. Padiath, Ana Potic, Bruce Nmezi, 2015, Journal of the Neurological Sciences.

Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature

R. Schiffmann, I. Thiffault, T. Pastinen, 2023, Orphanet Journal of Rare Diseases.