Macarena Cabrera-Serrano

11PUBLICATIONS
41CO-AUTHORS
Medical virologyNeurology and neuromuscular diseasesCarbon capture engineering (excl. sequestration)OptometryMolecular targets
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Publications (11)

|Jul 18, 2026
Impact of Sexuality in Patients With Motor Neuron Disease.

|Nov 12, 2024
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

Lein N H Dofash, Lee B Miles, Yoshihiko Saito

|Oct 17, 2024
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Andrea Cortese, Sarah J Beecroft, Stefano Facchini

|Jul 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Andrea Cortese, Sarah J Beecroft, Stefano Facchini

|Jul 28, 2023
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.

Fabiola Mavillard, Emilia Servian-Morilla, Lein Dofash

|Nov 02, 2022
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.

Lein N H Dofash, Gavin V Monahan, Emilia Servián-Morilla

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Frequent Collaborators

8 joint publications

Gina Ravenscroft

3 joint publications

Enrico Bugiardini

3 joint publications

Henry Houlden

3 joint publications

Carmen Paradas