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Search Results - Neeve, Vivienne C
Search Results - Neeve, Vivienne C
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Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
by
Taylor, Robert W
,
Pyle, Angela
,
Griffin, Helen
,
Blakely, Emma L
,
Duff, Jennifer
,
He, Langping
,
Smertenko, Tania
,
Alston, Charlotte L
,
Neeve, Vivienne C
,
Best, Andrew
,
Yarham, John W
,
Kirschner, Janbernd
,
Schara, Ulrike
,
Talim, Beril
,
Topaloglu, Haluk
,
Baric, Ivo
,
Holinski-Feder, Elke
,
Abicht, Angela
,
Czermin, Birgit
,
Kleinle, Stephanie
,
Morris, Andrew A. M
,
Vassallo, Grace
,
Gorman, Grainne S
,
Ramesh, Venkateswaran
,
Turnbull, Douglass M
,
Santibanez-Koref, Mauro
,
McFarland, Robert
,
Horvath, Rita
,
Chinnery, Patrick F
Published in
JAMA : the journal of the American Medical Association
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Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency
by
KEMP, John P
,
SMITH, Paul M
,
CZERMIN, Birgit
,
LOCHMÜLLER, Hanns
,
MCFARLAND, Robert
,
CHINNERY, Patrick F
,
CHRZANOWSKA-LIGHTOWLERS, Zofia M. A
,
LIGHTOWLERS, Robert N
,
TAYLOR, Robert W
,
HORVATH, Rita
,
PYLE, Angela
,
NEEVE, Vivienne C. M
,
TUPPEN, Helen A. L
,
SCHARA, Ulrike
,
TALIM, Beril
,
TOPALOGLU, Haluk
,
HOLINSKI-FEDER, Elke
,
ABICHT, Angela
Published in
Brain (London, England : 1878)
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What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
by
Neeve, Vivienne C. M.
,
Samuels, David C.
,
Bindoff, Laurence A.
,
van den Bosch, Bianca
,
Van Goethem, Gert
,
Smeets, Hubert
,
Lombès, Anne
,
Jardel, Claude
,
Hirano, Michio
,
DiMauro, Salvatore
,
De Vries, Maaike
,
Smeitink, Jan
,
Smits, Bart W.
,
de Coo, Ireneus F. M.
,
Saft, Carsten
,
Klopstock, Thomas
,
Keiling, Bianca-Cortina
,
Czermin, Birgit
,
Abicht, Angela
,
Lochmüller, Hanns
,
Hudson, Gavin
,
Gorman, Grainne G.
,
Turnbull, Doug M.
,
Taylor, Robert W.
,
Holinski-Feder, Elke
,
Chinnery, Patrick F.
,
Horvath, Rita
Published in
Brain (London, England : 1878)
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A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy
by
Horvath, Rita
,
Holinski-Feder, Elke
,
Neeve, Vivienne C.M.
,
Pyle, Angela
,
Griffin, Helen
,
Ashok, Deephthi
,
Foley, Charlotte
,
Hudson, Gavin
,
Rautenstrauss PhD, Bernd
,
Nürnberg, Gudrun
,
Nürnberg, Peter
,
Kortler, Jörg
,
Neitzel, Birgit
,
Bäßmann, Ingelore
,
Rahman, Thahira
,
Keavney, Bernard
,
Loughlin, John
,
Hambleton, Sophie
,
Schoser, Benedikt
,
Lochmüller, Hanns
,
Santibanez-Koref, Mauro
,
Chinnery, Patrick F.
Published in
Movement disorders
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Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT
by
Neeve, Vivienne C M
,
Pyle, Angela
,
Boczonadi, Veronika
,
Gomez-Duran, Aurora
,
Griffin, Helen
,
Santibanez-Koref, Mauro
,
Gaiser, Ulrike
,
Bauer, Peter
,
Tzschach, Andreas
,
Chinnery, Patrick F
,
Horvath, Rita
Published in
Mitochondrion
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6
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Use of whole exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiency
by
Taylor, Robert W.
,
Pyle, Angela
,
Griffin, Helen
,
Blakely, Emma L.
,
Duff, Jennifer
,
He, Langping
,
Smertenko, Tania
,
Alston, Charlotte L.
,
Neeve, Vivienne C.
,
Best, Andrew
,
Yarham, John W.
,
Kirschner, Janbernd
,
Schara, Ulrike
,
Talim, Beril
,
Topaloglu, Haluk
,
Baric, Ivo
,
Holinski-Feder, Elke
,
Abicht, Angela
,
Czermin, Birgit
,
Kleinle, Stephanie
,
Morris, Andrew A.M.
,
Vassallo, Grace
,
Gorman, Grainne S.
,
Ramesh, Venkateswaran
,
Turnbull, Douglass M.
,
Santibanez-Koref, Mauro
,
McFarland, Robert
,
Horvath, Rita
,
Chinnery, Patrick F.
Published in
JAMA : the journal of the American Medical Association
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Article
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