Rare Diseases

Current bibliography for experts

"Cerebral Atrophy" search results...

CLN2

Unraveling neuronal ceroid lipofuscinosis type 2

2021-06-04

In this study, the majority of the patients presented with late-infantile onset seizures. Despite improved access to enzymatic and molecular testing, there is still a significant diagnostic delay

CLN2

MRI in CLN2 disease patients: Subtle features that support an early Diagnosis

2020-09-28

The aim of this study is to highlight common magnetic resonance imaging (MRI) features seen in early CLN2 disease and raise disease awareness among clinicians. Any of the mentioned features on MRI in this article should raise clinical suspicion to test for CLN2 disease.

CLN2

Neuronal ceroid lipofuscinosis type 2: An Australian case series

2020-04-24

This article aims to highlight typical clinical and radiological features that may prompt diagnosis of CLN2 disease in early disease stages.

News and Events

ASHG 2025

The ASHG (American Society of Human Genetics) 2025 Annual Meeting will be held in Boston from October 14-18. The meeting...

ESHG - Avrupa İnsan Genetiği Konferansı 2025

The annual ESHG 2025, European Conference on Human Genetics, will be held in Milan, Italy between 24-27 May 2024. Organi...

World Orphan Drug Congress 2025

World Orphan Drug Congress USA, one of the most important orphan drug and rare disease congresses, will be held in Bosto...

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Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...