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Journal of Neurology, Neurosurgery, and Psychiatry
|
August 14, 2014
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity
Maya Tchikviladzé, Mylène Gilleron, Thierry Maisonobe, et al.
Journal of Hepatology
|
February 16, 2005
Hepatitis C virus viral recurrence and liver mitochondrial damage after liver transplantation in HIV-HCV co-infected patients
Jean-Charles Duclos-Vallée, Daniel Vittecoq, Elina Teicher, et al.
European Journal of Human Genetics : EJHG
|
August 8, 2013
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort
Cécile Rouzier, Annabelle Chaussenot, Valérie Serre, et al.
Brain : a Journal of Neurology
|
July 21, 2016
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline
Katia Hardies, Yiying Cai, Claude Jardel, et al.
Elife
|
September 14, 2016
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
Virginia Guarani, Claude Jardel, Dominique Chrétien, et al.
Neurology
|
December 8, 2017
Multicenter evaluation of neurofilaments in early symptom onset amyotrophic lateral sclerosis
Emily Feneberg, Patrick Oeckl, Petra Steinacker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 27, 2021
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders
Celine Bris, David Goudenège, Valerie Desquiret-Dumas, et al.
Nature Communications
|
June 13, 2017
Genetic diagnosis of Mendelian disorders via RNA sequencing
Laura S Kremer, Daniel M Bader, Christian Mertes, et al.
Brain : a Journal of Neurology
|
December 20, 2012
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Vivienne C M Neeve, David C Samuels, Laurence A Bindoff, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
|
July 15, 2016
Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS
Patrick Oeckl, Claude Jardel, François Salachas, et al.
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of 6
Search research articles
Search
Showing results (41-50 of 52) with videos related to
Sort By:
Page
of 6
Journal of Neurology, Neurosurgery, and Psychiatry
|
August 14, 2014
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity
Maya Tchikviladzé, Mylène Gilleron, Thierry Maisonobe, et al.
Journal of Hepatology
|
February 16, 2005
Hepatitis C virus viral recurrence and liver mitochondrial damage after liver transplantation in HIV-HCV co-infected patients
Jean-Charles Duclos-Vallée, Daniel Vittecoq, Elina Teicher, et al.
European Journal of Human Genetics : EJHG
|
August 8, 2013
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort
Cécile Rouzier, Annabelle Chaussenot, Valérie Serre, et al.
Brain : a Journal of Neurology
|
July 21, 2016
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline
Katia Hardies, Yiying Cai, Claude Jardel, et al.
Elife
|
September 14, 2016
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
Virginia Guarani, Claude Jardel, Dominique Chrétien, et al.
Neurology
|
December 8, 2017
Multicenter evaluation of neurofilaments in early symptom onset amyotrophic lateral sclerosis
Emily Feneberg, Patrick Oeckl, Petra Steinacker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 27, 2021
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders
Celine Bris, David Goudenège, Valerie Desquiret-Dumas, et al.
Nature Communications
|
June 13, 2017
Genetic diagnosis of Mendelian disorders via RNA sequencing
Laura S Kremer, Daniel M Bader, Christian Mertes, et al.
Brain : a Journal of Neurology
|
December 20, 2012
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Vivienne C M Neeve, David C Samuels, Laurence A Bindoff, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
|
July 15, 2016
Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS
Patrick Oeckl, Claude Jardel, François Salachas, et al.
Page
of 6