NADAJ-PAKLEZA , Aleksandra

Last name: NADAJ-PAKLEZA

First name: Aleksandra

2015 (v1)

Journal article

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Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

Salort Campana, Emmanuelle Nguyen, Karine Bernard, Rafaelle

Background: Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35. Penetrance in the range of the largest alleles is poorly known. Our objective was to study the penetrance of FSHD1 in patients carrying alleles ranging...

Uploaded on: February 28, 2023
2019 (v1)

Journal article

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Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

Laforêt, Pascal Inoue, Michio Goillot, Evelyne

International audience

Uploaded on: December 4, 2022
2016 (v1)

Journal article

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Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

Dogan, Celine de Antonio, Marie Hamroun, Dalil

BACKGROUND: Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management and clinical trials. The CTG expansion size is the main factor determining the age of onset although no factor can finely predict phenotype and...

Uploaded on: December 4, 2022

NADAJ-PAKLEZA , Aleksandra

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