Scientific Publications
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Rett-Like Onset in Late-Infantile Neuronal Ceroid Lipofuscinosis
We present clinical and molecular findings of a patient with ceroid-lipofuscinosis CLN7, with a compound heterozygous mutation of the MFSD8 gene, with Rett syndrome clinical signs onset and a later […]
Unraveling Cellular Phenotypes of Novel TorsinA/TOR1A Mutations
Here, we report two new, putative TOR1A mutations (p.A14_P15del and p.E121K) that we examined functionally in comparison with wildtype (WT) protein and two known mutations (E and p.R288Q).
Mutation in FAM134B Causing Hereditary Sensory Neuropathy with Spasticity in a Turkish Family
Hereditary sensory and autonomic neuropathy (HSAN) type 2 is a rare autosomal recessive disease that was first described by Ota et al in 1973 (1). We report the clinical and pathological findings of […]
Idiopathic Small Fiber Neuropathy: Phenotype, Etiologies, and the Search for Fabry Disease
The following etiologies were identified in 12 patients: impaired glucose tolerance (58.3%), diabetes mellitus (16.6%), alcohol abuse (8.3%), mitochondrial disease (8.3%), and hereditary neuropathy […]
Fabry Disease – Underestimated in the Differential Diagnosis of Multiple Sclerosis?
There are several anamnestic and clinical hints indicating when Fabry disease should be considered a relevant differential diagnosis of multiple sclerosis, e.g. female patients with asymmetric, […]
Clinical, Genetic, and Brain Sonographic Features Related to Parkinson’s Disease in Gaucher Disease
Here we studied how clinical, genetic, and brain sonographic findings relate to the occurrence of PD in Gaucher disease. We conclude that the combined clinical, genetic, and transcranial sonographic […]
Diagnostic Difficulties in Krabbe Disease: A Report of Two Cases and Review of Literature
Globoid cell leukodystrophy (GLD, also known as Krabbe disease), whose pathophysiology is still not completely elucidated, is an inherited, metabolic, and neurodegenerative disease, caused by the […]
Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition?
Hereditary spastic paraplegias and related genetically heterogeneous disorders may be difficult to distinguish clinically. The FA2H gene has been associated with autosomal recessive neurodegenerative […]
Glucocerebrosidase Mutations in a Serbian Parkinson’s Disease Population
Gaucher disease (GD) is caused by homozygous or compound heterozygous mutations in the b-glucocerebrosidase (GBA) gene. GBA mutations can be classified according to phenotypic effects as mild […]