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Orphanet Journal of Rare Diseases
|
July 11, 2021
Clinical, molecular and glycophenotype insights in SLC39A8-CDG
Eleonora Bonaventura, Rita Barone, Luisa Sturiale, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 19, 2015
Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients
Costanza Lamperti, Federica Invernizzi, Roberta Solazzi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 11, 2011
Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: results of a phase II pilot trial
Giovanna Zorzi, Federica Zibordi, Luisa Chiapparini, et al.
Parkinsonism & Related Disorders
|
October 2, 2022
ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome
Giulia Straccia, Chiara Reale, Massimo Castellani, et al.
The Journal of Experimental Medicine
|
August 14, 2013
Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome
Anna Cozzi, Paolo Santambrogio, Daniela Privitera, et al.
Orphanet Journal of Rare Diseases
|
September 6, 2013
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases
Mirella Filocamo, Chiara Baldo, Stefano Goldwurm, et al.
Movement Disorders Clinical Practice
|
January 29, 2024
The Clinical Spectrum of ANO3-Report of a New Family and Literature Review
Marco Percetti, Michela Zini, Paola Soliveri, et al.
Frontiers in Neurology
|
September 8, 2017
Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy
Mattia Fonderico, Michele Laudisi, Nico Golfrè Andreasi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 5, 2007
Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements
Oronzo Scarciolla, Francesco Brancati, Enza Maria Valente, et al.
Biochimica Et Biophysica Acta
|
March 13, 2016
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies
Andrea Legati, Aurelio Reyes, Alessia Nasca, et al.
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of 13
Search research articles
Search
Showing results (51-60 of 129) with videos related to
Sort By:
Page
of 13
Orphanet Journal of Rare Diseases
|
July 11, 2021
Clinical, molecular and glycophenotype insights in SLC39A8-CDG
Eleonora Bonaventura, Rita Barone, Luisa Sturiale, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 19, 2015
Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients
Costanza Lamperti, Federica Invernizzi, Roberta Solazzi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 11, 2011
Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: results of a phase II pilot trial
Giovanna Zorzi, Federica Zibordi, Luisa Chiapparini, et al.
Parkinsonism & Related Disorders
|
October 2, 2022
ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome
Giulia Straccia, Chiara Reale, Massimo Castellani, et al.
The Journal of Experimental Medicine
|
August 14, 2013
Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome
Anna Cozzi, Paolo Santambrogio, Daniela Privitera, et al.
Orphanet Journal of Rare Diseases
|
September 6, 2013
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases
Mirella Filocamo, Chiara Baldo, Stefano Goldwurm, et al.
Movement Disorders Clinical Practice
|
January 29, 2024
The Clinical Spectrum of ANO3-Report of a New Family and Literature Review
Marco Percetti, Michela Zini, Paola Soliveri, et al.
Frontiers in Neurology
|
September 8, 2017
Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy
Mattia Fonderico, Michele Laudisi, Nico Golfrè Andreasi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 5, 2007
Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements
Oronzo Scarciolla, Francesco Brancati, Enza Maria Valente, et al.
Biochimica Et Biophysica Acta
|
March 13, 2016
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies
Andrea Legati, Aurelio Reyes, Alessia Nasca, et al.
Page
of 13