S. Padilla-Lopez

发表

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Klaus Lehnert, Holger Lerche, Annapurna Poduri, 2018, American journal of human genetics.

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Daniela C. Zarnescu, J. Gécz, J. Vincent, 2020, Nature Genetics.

BTN1, the Saccharomyces cerevisiae homolog to the human Batten disease gene, is involved in phospholipid distribution

D. Pearce, Chun‐Hung Chan, S. Padilla-Lopez, 2011, Disease Models & Mechanisms.

Saccharomyces cerevisiae Lacking Btn1p Modulate Vacuolar ATPase Activity to Regulate pH Imbalance in the Vacuole*

D. Pearce, S. Padilla-Lopez, 2006, Journal of Biological Chemistry.

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia

Hui Jiang, D. Yalnızoǧlu, Jianguo Zhang, 2016, Neurology: Genetics.

Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability

K. Bilguvar, Sara A. Lewis, M. Kruer, 2021, Neurology: Genetics.

pH-dependent localization of Btn1p in the yeast model for Batten disease

D. Pearce, S. Padilla-Lopez, Devin M. Wolfe, 2010, Disease Models & Mechanisms.

Genetic evidence for the requirement of the endocytic pathway in the uptake of coenzyme Q6 in Saccharomyces cerevisiae.

P. Navas, A. Martín-Montalvo, C. Clarke, 2009, Biochimica et biophysica acta.

Mutations disrupting neuritogenesis genes represent a major independent risk factor for cerebral palsy

Daniela C. Zarnescu, J. Gécz, S. Mane, 2020 .

Nitric Oxide Signaling Is Disrupted in the Yeast Model for Batten Disease □ D

J. Laranjinha, C. Leão, A. Carvalho, 2007 .

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

J. Rosenfeld, S. Wells, S. Mane, 2016, American journal of human genetics.

Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death

C. Brownstein, A. Beggs, S. Morton, 2017, Human molecular genetics.

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

R. Schüle, R. Boostani, T. Schwarzmayr, 2019, Nature Communications.

Comment on "Deletion of btn1, an orthologue of CLN3, increases glycolysis and perturbs amino acid metabolism in the fission yeast model of Batten disease".

D. Pearce, S. Padilla-Lopez, 2011, Molecular bioSystems.

Nitric oxide signaling is disrupted in the yeast model for Batten disease.

J. Laranjinha, C. Leão, A. Carvalho, 2007, Molecular biology of the cell.

Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease.

Seasson P. Vitiello, D. Pearce, S. Padilla-Lopez, 2010, Human molecular genetics.

AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorder

A. Bayat, G. Le Guyader, Sara A. Lewis, 2023, bioRxiv.

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy

G. Carvill, I. Scheffer, H. Mefford, 2020, Human mutation.

The use of DTT in the resolution of the interferences generated by daratumumab in the blood bank

S. Padilla-Lopez, R. Cázares-Tamez, A. Herrera-Garcia, 2017 .

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

J. Gécz, W. Chung, H. Hakonarson, 2021, American journal of human genetics.

The Phosphatase Ptc7 Induces Coenzyme Q Biosynthesis by Activating the Hydroxylase Coq7 in Yeast*

P. Navas, A. Martín-Montalvo, D. Brautigan, 2013, The Journal of Biological Chemistry.

Dystonia in ATP2B3‐associated X‐linked spinocerebellar ataxia

D. Craig, V. Narayanan, M. Huentelman, 2016, Movement disorders : official journal of the Movement Disorder Society.

Pantothenate kinase–associated neurodegeneration

M. Kruer, S. Padilla-Lopez, Sandra M. Nordlie, 2020, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

I. Scheffer, H. Mefford, E. Haan, 2019, American Journal of Human Genetics.

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

T. Kleefstra, F. Ramond, A. Riess, 2024, European journal of human genetics : EJHG.

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Marni J. Falk, J. Rosenfeld, S. Wells, 2016, American journal of human genetics.