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Philippa B Mills

Showing results (21-30 of 48) with videos related to

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Annals of Neurology|August 28, 2007
An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1)Gajja S Salomons, Levinus A Bok, Eduard A Struys, et al.
F1000Research|February 3, 2022
Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatmentKatharina Iwan, Nina Patel, Amanda Heslegrave, et al.
JIMD Reports|March 13, 2015
Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic EncephalopathyAlina Levtova, Stephane Camuzeaux, Anne-Marie Laberge, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 18, 2013
Phenotypic variability in a dystonia family with mutations in the manganese transporter geneCathérine C S Delnooz, Ron A Wevers, Marialuisa Quadri, et al.
Nature Medicine|February 24, 2006
Mutations in antiquitin in individuals with pyridoxine-dependent seizuresPhilippa B Mills, Eduard Struys, Cornelis Jakobs, et al.
JIMD Reports|October 9, 2015
Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6Emma S Reid, Hywel Williams, Polona Le Quesne Stabej, et al.
Epilepsia|April 11, 2016
RARS2 mutations in a sibship with infantile spasmsAdeline Ngoh, Jose Bras, Rita Guerreiro, et al.
Neuromuscular Disorders : NMD|June 12, 2020
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolismNatalie Keller, Natalia Mendoza-Ferreira, Reza Maroofian, et al.
Human Molecular Genetics|March 18, 2005
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidasePhilippa B Mills, Robert A H Surtees, Michael P Champion, et al.
Orphanet Journal of Rare Diseases|July 3, 2016
TRNT1 deficiency: clinical, biochemical and molecular genetic featuresYehani Wedatilake, Rojeen Niazi, Elisa Fassone, et al.
Pageof 5

Showing results (21-30 of 48) with videos related to

Sort By:
Pageof 5
Annals of Neurology|August 28, 2007
An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1)Gajja S Salomons, Levinus A Bok, Eduard A Struys, et al.
F1000Research|February 3, 2022
Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatmentKatharina Iwan, Nina Patel, Amanda Heslegrave, et al.
JIMD Reports|March 13, 2015
Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic EncephalopathyAlina Levtova, Stephane Camuzeaux, Anne-Marie Laberge, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 18, 2013
Phenotypic variability in a dystonia family with mutations in the manganese transporter geneCathérine C S Delnooz, Ron A Wevers, Marialuisa Quadri, et al.
Nature Medicine|February 24, 2006
Mutations in antiquitin in individuals with pyridoxine-dependent seizuresPhilippa B Mills, Eduard Struys, Cornelis Jakobs, et al.
JIMD Reports|October 9, 2015
Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6Emma S Reid, Hywel Williams, Polona Le Quesne Stabej, et al.
Epilepsia|April 11, 2016
RARS2 mutations in a sibship with infantile spasmsAdeline Ngoh, Jose Bras, Rita Guerreiro, et al.
Neuromuscular Disorders : NMD|June 12, 2020
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolismNatalie Keller, Natalia Mendoza-Ferreira, Reza Maroofian, et al.
Human Molecular Genetics|March 18, 2005
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidasePhilippa B Mills, Robert A H Surtees, Michael P Champion, et al.
Orphanet Journal of Rare Diseases|July 3, 2016
TRNT1 deficiency: clinical, biochemical and molecular genetic featuresYehani Wedatilake, Rojeen Niazi, Elisa Fassone, et al.
Pageof 5