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Christian Beetz

Showing results (91-100 of 160) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|October 26, 2024
Genetic and Epidemiological Insights into RAB32-Linked Parkinson's DiseaseMandy Radefeldt, Sabrina Lemke, Kridsadakorn Chaichoompu, et al.
The Journal of Pathology|August 22, 2014
Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomasMiriam J Smith, Andrew J Wallace, Chris Bennett, et al.
Annals of Medicine|October 18, 2021
Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiologyVolha Skrahina, Ulrike Grittner, Christian Beetz, et al.
The Journal of Clinical Investigation|September 21, 2013
A spastic paraplegia mouse model reveals REEP1-dependent ER shapingChristian Beetz, Nicole Koch, Mukhran Khundadze, et al.
American Journal of Medical Genetics. Part A|November 9, 2020
Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literatureMimi Tin-Yan Seto, Aida M Bertoli-Avella, Ka Wang Cheung, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 14, 2020
The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial FindingsVolha Skrahina, Hanaa Gaber, Eva-Juliane Vollstedt, et al.
Brain : a Journal of Neurology|February 27, 2018
Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegiaTimothy Newton, Rachel Allison, James R Edgar, et al.
Journal of Medical Genetics|March 23, 2022
A polymorphic AT-repeat causes frequent allele dropout for an <i>MME</i> mutational hotspot exonHelle Høyer, Hilde T Hilmarsen, Raute Sunder-Plassmann, et al.
Clinical Genetics|April 24, 2020
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotypeSalam Massadeh, Amal Alhashem, Ingrid M B H van de Laar, et al.
Neurology|December 7, 2014
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosisMiriam J Smith, Bertand Isidor, Christian Beetz, et al.
Pageof 16

Showing results (91-100 of 160) with videos related to

Sort By:
Pageof 16
Movement Disorders : Official Journal of the Movement Disorder Society|October 26, 2024
Genetic and Epidemiological Insights into RAB32-Linked Parkinson's DiseaseMandy Radefeldt, Sabrina Lemke, Kridsadakorn Chaichoompu, et al.
The Journal of Pathology|August 22, 2014
Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomasMiriam J Smith, Andrew J Wallace, Chris Bennett, et al.
Annals of Medicine|October 18, 2021
Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiologyVolha Skrahina, Ulrike Grittner, Christian Beetz, et al.
The Journal of Clinical Investigation|September 21, 2013
A spastic paraplegia mouse model reveals REEP1-dependent ER shapingChristian Beetz, Nicole Koch, Mukhran Khundadze, et al.
American Journal of Medical Genetics. Part A|November 9, 2020
Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literatureMimi Tin-Yan Seto, Aida M Bertoli-Avella, Ka Wang Cheung, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 14, 2020
The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial FindingsVolha Skrahina, Hanaa Gaber, Eva-Juliane Vollstedt, et al.
Brain : a Journal of Neurology|February 27, 2018
Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegiaTimothy Newton, Rachel Allison, James R Edgar, et al.
Journal of Medical Genetics|March 23, 2022
A polymorphic AT-repeat causes frequent allele dropout for an <i>MME</i> mutational hotspot exonHelle Høyer, Hilde T Hilmarsen, Raute Sunder-Plassmann, et al.
Clinical Genetics|April 24, 2020
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotypeSalam Massadeh, Amal Alhashem, Ingrid M B H van de Laar, et al.
Neurology|December 7, 2014
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosisMiriam J Smith, Bertand Isidor, Christian Beetz, et al.
Pageof 16