A. Matilla-Dueñas

发表

Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37

V. Volpini, S. Jesús, Carlota Méndez-del-Barrio, 2018, Brain : a journal of neurology.

Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1.

R. P. Menon, T. Révész, M. Pandolfo, 2007, Human molecular genetics.

The highly heterogeneous spinocerebellar ataxias: From genes to targets for therapeutic intervention

A. Matilla-Dueñas, Antoni Matilla-Dueñas, 2008, The Cerebellum.

A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability

J. Riancho, Marc Corral-Juan, A. Matilla-Dueñas, 2020, Neurological Sciences.

Ataxia and Action Myoclonus Related to Novel Mutations in ATP13A2 Gene

J. Infante, A. Pelayo-Negro, Marc Corral-Juan, 2021, Movement disorders clinical practice.

Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia

V. Volpini, Eva López, I. Sánchez, 2015, neurogenetics.

A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1.

M. Pandolfo, Marc Corral-Juan, I. Sánchez, 2013, Human molecular genetics.

New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy

J. Arenas, Miguel Ángel Martín, F. Martínez-Azorín, 2016, neurogenetics.

Ataxia Rating Scales—Psychometric Profiles, Natural History and Their Application in Clinical Trials

Pilar Latorre, Jorge Sequeiros, J. Sequeiros, 2011, The Cerebellum.

New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.

J. Kulisevsky, A. Durr, A. Navarro, 2013, JAMA neurology.

Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

M. Menéndez-González, A. Plasencia, Marc Corral-Juan, 2019, Journal of Translational Medicine.

Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias

Daniel R. Scoles, S. Pulst, D. Rubinsztein, 2013, The Cerebellum.

The spinocerebellar ataxias: clinical aspects and molecular genetics.

V. Volpini, Marc Corral-Juan, A. Matilla-Dueñas, 2012, Advances in experimental medicine and biology.

Cellular and Molecular Pathways Triggering Neurodegeneration in the Spinocerebellar Ataxias

A. Dávalos, R. Álvarez, Marc Corral-Juan, 2010, The Cerebellum.

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

I. Gut, B. Wirth, F. Muntoni, 2020, The Journal of molecular diagnostics : JMD.

A.04 The classification of autosomal recessive cerebellar ataxias: a consensus statement from the society for research on the cerebellum and ataxias task force

H. Mitoma, J. Schmahmann, S. Tsuji, 2019, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Rare Neurodegenerative Diseases: Clinical and Genetic Update.

V. Volpini, G. Pintos-Morell, R. Álvarez, 2017, Advances in experimental medicine and biology.

The Ever Expanding Spinocerebellar Ataxias. Editorial

A. Matilla-Dueñas, 2012, The Cerebellum.

New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)

E. Tolosa, V. Volpini, Marc Corral-Juan, 2022, Brain communications.

Machado-Joseph disease and other rare spinocerebellar ataxias.

A. Matilla-Dueñas, 2012, Advances in experimental medicine and biology.

Genetics of the Autosomal Dominant Spinocerebellar Ataxias

V. Volpini, J. Corral, Marc Corral-Juan, 2011 .

Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1

Paola Giunti, P. Giunti, A. Matilla-Dueñas, 2008, The Cerebellum.

Genotype of an individual single nucleotide polymorphism regulates DNA methylation at the TRPC3 alternative promoter

E. Coto, V. Volpini, D. Monk, 2011, Epigenetics.

Ataxin-1 regulates the cerebellar bioenergetics proteome through the GSK3β-mTOR pathway which is altered in Spinocerebellar ataxia type 1 (SCA1).

A. Matilla-Dueñas, I. Sánchez, Eudald Balagué, 2016, Human molecular genetics.

Novel Therapeutic Challenges in Cerebellar Diseases

R. Álvarez, A. Matilla-Dueñas, P. Latorre, 2021, Handbook of the Cerebellum and Cerebellar Disorders.

Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia

V. Volpini, Eva López, A. Matilla-Dueñas, 2014, neurogenetics.

Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene

A. Nieto, F. Monton, Marc Corral-Juan, 2019, Neurocase.

The Ever Expanding Spinocerebellar Ataxias. Editorial

A. Matilla-Dueñas, 2012, The Cerebellum.

Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

M. Menéndez-González, A. Plasencia, Marc Corral-Juan, 2019, Journal of Translational Medicine.

Ataxia Rating Scales—Psychometric Profiles, Natural History and Their Application in Clinical Trials

J. Sequeiros, C. Serrano-Munuera, A. Matilla-Dueñas, 2012, The Cerebellum.

J. Infante, J. Berciano, E. M. de Lucas, 2019, Journal of Neurology.

FMR1 Premutation: Basic Mechanisms and Clinical Involvement

M. Milá, A. Matilla-Dueñas, L. Rodríguez-Revenga, 2016, Cerebellum.

The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force

H. Mitoma, J. Schmahmann, G. Rouleau, 2019, The Cerebellum.

Ataxia Rating Scales—Psychometric Profiles, Natural History and Their Application in Clinical Trials

J. Sequeiros, A. Matilla-Dueñas, On behalf of the Iberoamerican Multidisciplinary Netw Group, 2011, The Cerebellum.

New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.

J. Kulisevsky, A. Durr, A. Navarro, 2013, JAMA neurology.