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Sacha Weber

Showing results (1-10 of 18) with videos related to

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La Revue Du Praticien|October 5, 2023
[Genetics of amyotrophic lateral sclerosis]Sacha Weber, Philippe Corcia, Fausto Viader
American Journal of Epidemiology|September 24, 2002
Mapping disease incidence in suburban areas using remotely sensed dataAnnelise Tran, Jacques Gardon, Sacha Weber, et al.
Neurology|August 21, 2024
Clinical Reasoning: A 50-Year-Old Man With Intracerebral Hemorrhage and Tortuous Retinal ArteriolesJean Bouchart, Sacha Weber, Thibault Coste, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 29, 2025
Functional and Structural Characterization of LRRK2 p.V1447L in Parkinson's DiseaseNeringa Pratuseviciute, Pawel Lis, Sacha Weber, et al.
Brain : a Journal of Neurology|December 8, 2022
Two RFC1 splicing variants in CANVASSacha Weber, Giulia Coarelli, Anna Heinzmann, et al.
Cerebellum (London, England)|June 23, 2026
Transitional Life Events in Friedreich Ataxia: Differential Age at Onset PerspectivesAudrey Iskandar, Maresa Buchholz, Dorota Sarwinska, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 17, 2024
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotypeCamilla Sarli, Liselot van der Laan, Jack Reilly, et al.
European Journal of Human Genetics : EJHG|September 22, 2025
Further phenotypical delineation of DLG3-related neurodevelopmental disordersMarlène Malbos, Thierry Gautier, Amelle Shillington, et al.
Nature Communications|October 10, 2025
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorderMaggie M K Wong, Rosalie A Kampen, Ruth O Braden, et al.
European Journal of Neurology|June 28, 2025
Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and CharacteristicsJulian Theuriet, Lukas Paulet, Blandine Acket, et al.
Pageof 2

Showing results (1-10 of 18) with videos related to

Sort By:
Pageof 2
La Revue Du Praticien|October 5, 2023
[Genetics of amyotrophic lateral sclerosis]Sacha Weber, Philippe Corcia, Fausto Viader
American Journal of Epidemiology|September 24, 2002
Mapping disease incidence in suburban areas using remotely sensed dataAnnelise Tran, Jacques Gardon, Sacha Weber, et al.
Neurology|August 21, 2024
Clinical Reasoning: A 50-Year-Old Man With Intracerebral Hemorrhage and Tortuous Retinal ArteriolesJean Bouchart, Sacha Weber, Thibault Coste, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 29, 2025
Functional and Structural Characterization of LRRK2 p.V1447L in Parkinson's DiseaseNeringa Pratuseviciute, Pawel Lis, Sacha Weber, et al.
Brain : a Journal of Neurology|December 8, 2022
Two RFC1 splicing variants in CANVASSacha Weber, Giulia Coarelli, Anna Heinzmann, et al.
Cerebellum (London, England)|June 23, 2026
Transitional Life Events in Friedreich Ataxia: Differential Age at Onset PerspectivesAudrey Iskandar, Maresa Buchholz, Dorota Sarwinska, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 17, 2024
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotypeCamilla Sarli, Liselot van der Laan, Jack Reilly, et al.
European Journal of Human Genetics : EJHG|September 22, 2025
Further phenotypical delineation of DLG3-related neurodevelopmental disordersMarlène Malbos, Thierry Gautier, Amelle Shillington, et al.
Nature Communications|October 10, 2025
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorderMaggie M K Wong, Rosalie A Kampen, Ruth O Braden, et al.
European Journal of Neurology|June 28, 2025
Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and CharacteristicsJulian Theuriet, Lukas Paulet, Blandine Acket, et al.
Pageof 2