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Reza Boostani

Showing results (111-120 of 119) with videos related to

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Annals of Clinical and Translational Neurology|September 26, 2025
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy MimicsGregorio A Nolasco, Mònica Roldán, Yalda Jamshidi, et al.
Frontiers in Neurology|June 19, 2023
Iranian clinical practice guideline for amyotrophic lateral sclerosisReza Boostani, Nahid Olfati, Hosein Shamshiri, et al.
BMC Medical Genetics|November 14, 2018
Expanding the clinical phenotype of IARS2-related mitochondrial diseaseBarbara Vona, Reza Maroofian, Emanuele Bellacchio, et al.
Iranian Journal of Allergy, Asthma, and Immunology|May 11, 2026
The Value of Anti-Drug Antibody Detection in Discriminating Patients from Healthy Controls and Predicting the Gross Motor Functional State in Patients with Pompe DiseaseSolmaz Aziz-Ahari, Mahdi Aminian, Aliasghar Rahimian, et al.
Human Mutation|June 3, 2018
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophiesMert Karakaya, Markus Storbeck, Eike A Strathmann, et al.
Nature Communications|October 23, 2019
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegiaMatias Wagner, Daniel P S Osborn, Ina Gehweiler, et al.
Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Biallelic variation in the choline and ethanolamine transporter <i>FLVCR1</i> underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disordersDaniel G Calame, Jovi Huixin Wong, Puravi Panda, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2024
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrumDaniel G Calame, Jovi Huixin Wong, Puravi Panda, et al.
Annals of Neurology|October 7, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset ParkinsonismHormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, et al.
Pageof 12

Showing results (111-120 of 119) with videos related to

Sort By:
Pageof 12
You have reached the last page of results.This site can display upto 119 results.
Annals of Clinical and Translational Neurology|September 26, 2025
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy MimicsGregorio A Nolasco, Mònica Roldán, Yalda Jamshidi, et al.
Frontiers in Neurology|June 19, 2023
Iranian clinical practice guideline for amyotrophic lateral sclerosisReza Boostani, Nahid Olfati, Hosein Shamshiri, et al.
BMC Medical Genetics|November 14, 2018
Expanding the clinical phenotype of IARS2-related mitochondrial diseaseBarbara Vona, Reza Maroofian, Emanuele Bellacchio, et al.
Iranian Journal of Allergy, Asthma, and Immunology|May 11, 2026
The Value of Anti-Drug Antibody Detection in Discriminating Patients from Healthy Controls and Predicting the Gross Motor Functional State in Patients with Pompe DiseaseSolmaz Aziz-Ahari, Mahdi Aminian, Aliasghar Rahimian, et al.
Human Mutation|June 3, 2018
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophiesMert Karakaya, Markus Storbeck, Eike A Strathmann, et al.
Nature Communications|October 23, 2019
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegiaMatias Wagner, Daniel P S Osborn, Ina Gehweiler, et al.
Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Biallelic variation in the choline and ethanolamine transporter <i>FLVCR1</i> underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disordersDaniel G Calame, Jovi Huixin Wong, Puravi Panda, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2024
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrumDaniel G Calame, Jovi Huixin Wong, Puravi Panda, et al.
Annals of Neurology|October 7, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset ParkinsonismHormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, et al.
Pageof 12