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Research article

First published 2014-11

Molecular Investigation of Distal Renal Tubular Acidosis in Tunisia,Evidence for Founder Mutations

Majdi Nagara, Konstantinos Voskarides, Sonia Nouira [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published

GNE Myopathy: Two Clusters with History and Several Founder Mutations

Zohar Argov, Stella Mitrani Rosenbaum

Journal of Neuromuscular Diseases

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Research article

First published 2002-09

Founder Mutation R245H of Sanfilippo Syndrome Type A in the Cayman Islands

Peter L. Rady, Sankar Surendran, Ahn T. Vu [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2010-06

High Frequency of the p.R34X Mutation in the TMC1 Gene Associated with Nonsyndromic Hearing Loss Is Due to Founder Effects

Mariem Ben Saïd, Mounira Hmani-Aifa, Imen Amar [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2017-12

Founder Effect of the RET C611Y Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study

Jes Sloth Mathiesen, Jens Peter Kroustrup, Peter Vestergaard [...]

Thyroid®

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Research article

First published 2020-10-27

The Rise of the GRN C157KfsX97 Mutation in Southern Italy: Going Back to the Fall of the Western Roman Empire

Cinzia Coppola, Dario Saracino, Mariano Oliva [...]

Journal of Alzheimer’s Disease

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Research article

First published 2008-06

COL4A3 Founder Mutations in Greek-Cypriot Families with Thin Basement Membrane Nephropathy and Focal Segmental Glomerulosclerosis Dating from Around 18th Century

Konstantinos Voskarides, Charalampos Patsias, Alkis Pierides [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2025-11

DCTN1 -associated neurological disorder with symptoms similar to spinal bulbar muscular atrophy

Byeonghyeon Lee, Seong Tae Cho, Ryul Kim [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2018-2-21

Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent

Sudha Bhattacharya, Satish V. Khadilkar, Atchayaram Nalini [...]

Journal of Neuromuscular Diseases

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Research article

First published 2012-12-3

Estimating the Age of the Most Common Italian GRN Mutation: Walking Back to Canossa Times

Luisa Benussi, Rosa Rademakers, Nicola J. Rutherford [...]

Journal of Alzheimer’s Disease

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