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Browsing publications by
Dr Marta Bertoli
Newcastle Authors
Title
Year
Full text
Dr Laura Yates
Dr Marta Bertoli
Nine newly identified individuals refine the phenotype associated with
MYT1L
mutations
2020
Dr Ana Topf
Dr Katherine Johnson
Adam Bates
Lauren Phillips
Dr Marta Bertoli
et al.
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
2020
Dr Marta Bertoli
Dr Simon Zwolinski
Dr Rhys Thomas
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
2020
Dr Katherine Johnson
Dr Ana Topf
Dr Marta Bertoli
Lauren Phillips
Dr James Miller
et al.
Extending the clinical and mutational spectrum of
TRIM32
-related myopathies in a non-Hutterite population
2019
Dr Marta Bertoli
Autosomal recessive primary microcephaly due to ASPM mutations: An update
2018
Dr Katherine Johnson
Dr Marta Bertoli
Lauren Phillips
Dr Ana Topf
Roberto Fernandez-Torron
et al.
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness
2018
Dr Marta Bertoli
Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of
SULF1
without alterations in the
SLCOA1
gene
2018
Dr Marta Bertoli
Dr Chiara Marini Bettolo
Professor Hanns Lochmuller
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy
2018
Lauren Phillips
Dr Katherine Johnson
Dr Marta Bertoli
Professor Hanns Lochmuller
Professor Volker Straub
et al.
A novel recessive
TTN
founder variant is a common cause of distal myopathy in the Serbian population
2017
Dr Lizzie Harris
Dr Umar Burki
Dr Chiara Marini Bettolo
Dr Marta Bertoli
Dr Teresinha Evangelista
et al.
Complex phenotypes associated with
STIM1
mutations in both coiled coil and EF-hand domains
2017
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