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Salmo Raskin

Showing results (91-100 of 112) with videos related to

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Neurology. Genetics|September 16, 2024
Global Presence and Penetrance of <i>CSF1R</i>-Related DisorderJaroslaw Dulski, Matthew Baker, Samantha A Banks, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 7, 2010
Olfactory heterogeneity in LRRK2 related ParkinsonismLaura Silveira-Moriyama, Renato Pupi Munhoz, Margarete de J Carvalho, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2026
Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertensionAnna Lehman, Sana Ahmed, Arezoo Mohajeri, et al.
Neurology. Genetics|August 30, 2023
Frequency of GAA-<i>FGF14</i> Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar AtaxiaLuiz Eduardo Novis, Rodrigo S Frezatti, David Pellerin, et al.
Annals of Neurology|August 2, 2003
How much phenotypic variation can be attributed to parkin genotype?Ebba Lohmann, Magali Periquet, Vincenzo Bonifati, et al.
American Journal of Human Genetics|December 24, 2013
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defectsFrancine P Favaro, Lucas Alvizi, Roseli M Zechi-Ceide, et al.
Neurology|October 19, 2012
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraineAlice R Gardiner, Kailash P Bhatia, Maria Stamelou, et al.
Human Mutation|October 23, 2012
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneityArianna Tucci, Eleanna Kara, Anna Schossig, et al.
Frontiers in Neurology|December 7, 2020
Is Ataxia an Underestimated Symptom of Huntington's Disease?Gustavo L Franklin, Carlos Henrique F Camargo, Alex T Meira, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 18, 2018
Targeted knockout of a chemokine-like gene increases anxiety and fear responsesJung-Hwa Choi, Yun-Mi Jeong, Sujin Kim, et al.
Pageof 12

Showing results (91-100 of 112) with videos related to

Sort By:
Pageof 12
Neurology. Genetics|September 16, 2024
Global Presence and Penetrance of <i>CSF1R</i>-Related DisorderJaroslaw Dulski, Matthew Baker, Samantha A Banks, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 7, 2010
Olfactory heterogeneity in LRRK2 related ParkinsonismLaura Silveira-Moriyama, Renato Pupi Munhoz, Margarete de J Carvalho, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2026
Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertensionAnna Lehman, Sana Ahmed, Arezoo Mohajeri, et al.
Neurology. Genetics|August 30, 2023
Frequency of GAA-<i>FGF14</i> Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar AtaxiaLuiz Eduardo Novis, Rodrigo S Frezatti, David Pellerin, et al.
Annals of Neurology|August 2, 2003
How much phenotypic variation can be attributed to parkin genotype?Ebba Lohmann, Magali Periquet, Vincenzo Bonifati, et al.
American Journal of Human Genetics|December 24, 2013
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defectsFrancine P Favaro, Lucas Alvizi, Roseli M Zechi-Ceide, et al.
Neurology|October 19, 2012
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraineAlice R Gardiner, Kailash P Bhatia, Maria Stamelou, et al.
Human Mutation|October 23, 2012
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneityArianna Tucci, Eleanna Kara, Anna Schossig, et al.
Frontiers in Neurology|December 7, 2020
Is Ataxia an Underestimated Symptom of Huntington's Disease?Gustavo L Franklin, Carlos Henrique F Camargo, Alex T Meira, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 18, 2018
Targeted knockout of a chemokine-like gene increases anxiety and fear responsesJung-Hwa Choi, Yun-Mi Jeong, Sujin Kim, et al.
Pageof 12