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Bugiardini, Enrico
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1

Role of the repeat expansion size in predicting age of onse..:

Currò, Riccardo ; Dominik, Natalia ; Facchini, Stefano...
Brain.  147 (2024)  5 - p. 1887-1898 , 2024
Link: https://doi.org/10.1093/..
 
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2

The first genetically confirmed cohort of Facioscapulohumer..:

Vishnu, Venugopalan Y. ; Lemmers, Richard J. L. F. ; Reyaz, Alisha...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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3

Optical Genome Mapping for the Molecular Diagnosis of Facio..:

Efthymiou, Stephanie ; Lemmers, Richard J. L. F. ; Vishnu, Venugopalan Y....
Biomolecules.  13 (2023)  11 - p. 1567 , 2023
Link: https://doi.org/10.3390/..
 
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4

A Novel Variant in TPM3 Causing Muscle Weakness and Concomi..:

Robaszkiewicz, Katarzyna ; Siatkowska, Małgorzata ; Wadman, Renske I....
International Journal of Molecular Sciences.  24 (2023)  22 - p. 16147 , 2023
Link: https://doi.org/10.3390/..
 
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5

Autosomal dominant in cis D4Z4 repeat array duplication all..:

Lemmers, Richard J L F ; Butterfield, Russell ; van der Vliet, Patrick J...
Brain.  , 2023
Link: https://doi.org/10.1093/..
 
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6

Mutations in alpha‐B‐crystallin cause autosomal dominant ax..:

Cortese, Andrea ; Currò, Riccardo ; Ronco, Riccardo...
European Journal of Neurology.  31 (2023)  1 - p. , 2023
Link: https://doi.org/10.1111/..
 
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7

268th ENMC workshop - Genetic diagnosis, clinical classific..:

Montagnese, Federica ; de Valle, Katy ; Lemmers, Richard J.L.F....
Neuromuscular Disorders.  33 (2023)  5 - p. 447-462 , 2023
Link: https://doi.org/10.1016/..
 
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8

Enhanced mitochondrial genome analysis: bioinformatic and l..:

Macken, William L. ; Falabella, Micol ; Pizzamiglio, Chiara...
Expert Review of Molecular Diagnostics.  23 (2023)  9 - p. 797-814 , 2023
Link: https://doi.org/10.1080/..
 
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9

Optical Genome Mapping Enables Detection and Accurate Sizin..:

Facchini, Stefano ; Dominik, Natalia ; Manini, Arianna...
Biomolecules.  13 (2023)  10 - p. 1546 , 2023
Link: https://doi.org/10.3390/..
 
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10

Integrin α7 Mutations Are Associated With Adult‐Onset Cardi..:

Bugiardini, Enrico ; Nunes, Andreia M. ; Oliveira‐Santos, Ariany...
Journal of the American Heart Association.  11 (2022)  23 - p. , 2022
Link: https://doi.org/10.1161/..
 
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11

Understanding Falls in FSHD (P14-13.007):

Bugiardini, Enrico ; Eichinger, Katy ; Hanna, Michael...
Neurology.  98 (2022)  18_supplement - p. , 2022
Link: https://doi.org/10.1212/..
 
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12

A homozygous MED11 C-terminal variant causes a lethal neuro..:

Calì, Elisa ; Lin, Sheng-Jia ; Rocca, Clarissa...
Genetics in Medicine.  24 (2022)  10 - p. 2194-2203 , 2022
Link: https://doi.org/10.1016/..
 
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13

ANGPTL6Genetic Variants Are an Underlying Cause of Familial..:

Hostettler, Isabel C. ; O'Callaghan, Benjamin ; Bugiardini, Enrico...
Neurology.  96 (2021)  6 - p. , 2021
Link: https://doi.org/10.1212/..
 
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14

Mitochondrial DNA Analysis from Exome Sequencing Data Impro..:

Poole, Olivia V. ; Pizzamiglio, Chiara ; Murphy, David...
Annals of Neurology.  89 (2021)  6 - p. 1240-1247 , 2021
Link: https://doi.org/10.1002/..
 
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15

Use of whole genome sequencing to determine genetic basis o..:

Schon, Katherine R ; Horvath, Rita ; Wei, Wei...
BMJ.  , 2021
Link: https://doi.org/10.1136/..
 
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