Barbara Garavaglia

Consejo Nacional de Investigaciones Científicas y Técnicas — Argentina

Biochemistry, Genetics and Molecular Biology · Life Sciences

50h-index8.5kcitations299works2.52yr avg
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Research Topics

Metabolism and Genetic Disorders(74), Mitochondrial Function and Pathology(56), Neurological disorders and treatments(55), Parkinson's Disease Mechanisms and Treatments(51), Neurological diseases and metabolism(47)

Publications297 total

Unraveling the role of GBA1 genotype in axial signs response to subthalamic deep brain stimulation
npj Parkinson s Disease·2025Open Access
Compound Heterozygous Structural Variants in Cases with Unsolved <scp> <i>PRKN</i> </scp> ‐Associated Parkinson's Disease
Movement Disorders·2025Open Access
A Twisting Diagnosis: A New Case of <scp>VPS16</scp> ‐Related Hyperkinetic Spectrum and Literature Review
Movement Disorders Clinical Practice·2025
Effects of <i>GBA1</i> Variants in Patients With Parkinson's Disease and Levodopa–Carbidopa Intestinal Gel: A Nation‐Wide, Multicenter, Longitudinal, “Real‐World” Study. The <scp>EPIC</scp> Study
European Journal of Neurology·2025· 2 citedOpen Access
LC-MS/MS-Based Determination of Ambroxol in Human Plasma and Cerebrospinal Fluid: Validation and Applicability in a Phase II Study on GBA-Associated Parkinson’s Disease Patients
International Journal of Molecular Sciences·2025· 1 citedOpen Access
Deep Brain Stimulation for <scp> <i>VPS16</i> </scp> ‐Related Dystonia: A Multicenter Study
Annals of Neurology·2025· 4 citedOpen Access
Gender Is the Main Predictor of Wearing‐Off and Dyskinesia in Levodopa‐Naïve Patients with Parkinson's Disease
Movement Disorders Clinical Practice·2025· 3 citedOpen Access
Efficient glyphosate removal from groundwater by biogenic manganese oxides produced by Pseudomonas sagittaria
The Microbe·2025· 1 citedOpen Access
Genetic Etiology Influences the Low‐Frequency Components of Globus Pallidus Internus Electrophysiology in Dystonia
European Journal of Neurology·2025· 1 citedOpen Access
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia
Brain·2025· 13 citedOpen Access
Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes
Annals of Neurology·2025· 8 citedOpen Access
Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G &gt; A; (p. Arg418Gln)
Stem Cell Research·2025Open Access
α-Synuclein distribution in olfactory mucosa and skin nerves in Parkinson disease associated with an <i>EIF4G1</i> gene mutation
Journal of Neuropathology & Experimental Neurology·2025
<i>CLN6</i>‐related continuum phenotype caused by aberrant splicing
Epilepsia Open·2024· 1 citedOpen Access
Causative Role of the <scp><i>SLC6A1</i></scp> p.<scp>Asp451Gly</scp> Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder
Movement Disorders Clinical Practice·2024Open Access
Exploring the Impact of Sex and Gender in Brain Function: Implications and Considerations
Advances in Therapy·2024· 12 citedOpen Access
WDR45-dependent impairment of cell cycle in fibroblasts of patients with beta propeller protein-associated neurodegeneration (BPAN)
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research·2024Open Access
Potassium Channel Subunit Kir4.1 Mutated in Paroxysmal Kinesigenic Dyskinesia: Screening of an Italian Cohort
Movement Disorders·2024· 2 citedOpen Access
Determination of Ambroxol Levels in Plasma and Cerebrospinal Fluid by Online Solid-Phase Extraction Coupled with Liquid Chromatography-Tandem Mass Spectrometry in GBA-Parkinson Disease Patients
Parkinsonism & Related Disorders·2024
Illustration of the long-term efficacy of pallidal deep brain stimulation in a patient with PKAN dystonia
Parkinsonism & Related Disorders·2024· 1 cited
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Frequent Co-authors

Nardo Nardocci(17), Giovanna Zorzi(13), Henry Houlden(9), Daniele Ghezzi(8), Valeria Tiranti(7), Manju A. Kurian(6), Federica Zibordi(6), Niccolò E. Mencacci(6), Miryam Carecchio(6), Kailash P. Bhatia(5), Maria Teresa Pellecchia(5), Massimo Zeviani(5), Eleonora Lamantea(5), Federica Invernizzi(5), Enrico Bertini(5), Eugenia Borgione(5), Chiara Barzaghi(5), Celeste Panteghini(5), Franco Taroni(5), Allison Gregory(4)