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Keller Sarmiento, Ignacio J.
186  Ergebnisse:
Personensuche X
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1

De novo FRMD5 Missense Variants in Patients with Childhood‐..:

Keller Sarmiento, Ignacio J. ; Bustos, Bernabe I. ; Blackburn, Joanna...
Movement Disorders.  , 2024
Link: https://doi.org/10.1002/..
 
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2

Elucidating causative gene variants in hereditary Parkinson..:

Lange, Lara M. ; Avenali, Micol ; Ellis, Melina...
npj Parkinson's Disease.  9 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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3

Author Correction: Elucidating causative gene variants in h..:

Lange, Lara M. ; Avenali, Micol ; Ellis, Melina...
npj Parkinson's Disease.  9 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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4

Variants in ATP5F1B are associated with dominantly inherite..:

Nasca, Alessia ; Mencacci, Niccolò E ; Invernizzi, Federica...
Brain.  146 (2023)  7 - p. 2730-2738 , 2023
Link: https://doi.org/10.1093/..
 
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5

Novel THAP1 missense variant with incomplete penetrance in ..:

Keller Sarmiento, Ignacio J. ; Fraint, Avram ; Kinsley, Lisa...
Parkinsonism & Related Disorders.  105 (2022)  - p. 7-8 , 2022
Link: https://doi.org/10.1016/..
 
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6

Novel bi-allelic FBXO7 variants in a family with early-onse..:

Keller Sarmiento, Ignacio J. ; Afshari, Mitra ; Kinsley, Lisa...
Parkinsonism & Related Disorders.  104 (2022)  - p. 88-90 , 2022
Link: https://doi.org/10.1016/..
 
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7

Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive..:

Zech, Michael ; Kumar, Kishore R. ; Reining, Sophie...
Movement Disorders.  37 (2021)  1 - p. 137-147 , 2021
Link: https://doi.org/10.1002/..
 
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8

Genetic Dystonias: Update on Classification and New Genetic..:

Keller Sarmiento, Ignacio Juan ; Mencacci, Niccolò Emanuele
Current Neurology and Neuroscience Reports.  21 (2021)  3 - p. , 2021
Link: https://doi.org/10.1007/..
 
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9

Childhood‐Onset Chorea Caused by a Recurrent De Novo DRD2 V..:

Mencacci, Niccolò E. ; Steel, Dora ; Magrinelli, Francesca...
Movement Disorders.  36 (2021)  6 - p. 1472-1473 , 2021
Link: https://doi.org/10.1002/..
 
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10

YY1‐Related Dystonia: Clinical Aspects and Long‐Term Respon..:

Zorzi, Giovanna ; Keller Sarmiento, Ignacio Juan ; Danti, Federica Rachele...
Movement Disorders.  36 (2021)  6 - p. 1461-1462 , 2021
Link: https://doi.org/10.1002/..
 
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11

Rising evidence for neurological involvement in COVID-19 pa..:

Calcagno, Narghes ; Colombo, Eleonora ; Maranzano, Alessio...
Neurological Sciences.  41 (2020)  6 - p. 1339-1341 , 2020
Link: https://doi.org/10.1007/..
 
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12

Efficacy and safety of nabiximols (Sativex®) on multiple sc..:

Ferrè, Laura ; Nuara, Arturo ; Pavan, Giulia...
Neurological Sciences.  37 (2015)  2 - p. 235-242 , 2015
Link: https://doi.org/10.1007/..
 
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13

Variants in ATP5F1B are associated with dominantly inherite..:

Nasca, Alessia ; Mencacci, Niccolò E ; Invernizzi, Federica...
info:eu-repo/semantics/altIdentifier/pmid/36860166.  , 2023
Link: https://hdl.handle.net/2..
 
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14

Elucidating causative gene variants in hereditary Parkinson..:

Lange, Lara M ; Avenali, Micol ; Ellis, Melina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10300084/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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15

Author Correction: Elucidating causative gene variants in h..:

Lange, Lara Mariah ; Avenali, Micol ; Solle, Justin...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41531-023-00560-7.  , 2023
Link: https://pub.dzne.de/reco..
 
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