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Search Results - STEPHENSON, Sarah Em
Search Results - STEPHENSON, Sarah Em
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An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels
by
Yiu, Eppie M.
,
Tai, Geneieve
,
Peverill, Roger E.
,
Lee, Katherine J.
,
Croft, Kevin D.
,
Mori, Trevor A.
,
Scheiber-Mojdehkar, Barbara
,
Sturm, Brigitte
,
Praschberger, Monika
,
Vogel, Adam P.
,
Rance, Gary
,
Stephenson, Sarah E. M.
,
Sarsero, Joseph P.
,
Stockley, Creina
,
Lee, Chung-Yung J.
,
Churchyard, Andrew
,
Evans-Galea, Marguerite V.
,
Ryan, Monique M.
,
Lockhart, Paul J.
,
Corben, Louise A.
,
Delatycki, Martin B.
Published in
Journal of neurology
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Cytokine receptor signaling through the Jak–Stat–Socs pathway in disease
by
O'Sullivan, Lynda A.
,
Liongue, Clifford
,
Lewis, Rowena S.
,
Stephenson, Sarah E.M.
,
Ward, Alister C.
Published in
Molecular immunology
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The kids are OK: it is discrimination not same‐sex parents that harms children
by
Knight, Ken W
,
Stephenson, Sarah EM
,
West, Sue
,
Delatycki, Martin B
,
Jones, Cheryl A
,
Little, Melissa H
,
Patton, George C
,
Sawyer, Susan M
,
Skinner, S Rachel
,
Telfer, Michelle M
,
Wake, Melissa
,
North, Kathryn N
,
Oberklaid, Frank
Published in
Medical journal of Australia
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Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations
by
Spencer‐Smith, Megan
,
Knight, Jacquelyn L
,
Lacaze, Emmanuelle
,
Depienne, Christel
,
Lockhart, Paul J
,
Richards, Linda J
,
Heron, Delphine
,
Leventer, Richard J
,
Robinson, Gail A
,
Ceslis, Amelia
,
Gibson, Emily
,
Giraudat, Kim
,
McIlroy, Alissandra
,
Paul, Lynn K
,
Siffredi, Vanessa
,
Bahlo, Melanie
,
Barker, Megan
,
Blondiaux, Eleonore
,
Edwards, Timothy J
,
Garel, Catherine
,
Heide, Solveig
,
Keren, Boris
,
Mandelstam, Simone A
,
Marsh, Ashley PL
,
McGillivray, George
,
Mignot, Cyril
,
Moutard, Marie‐Laure
,
Nava, Caroline
,
Pope, Kate
,
Rastetter, Agnès
,
Stephenson, Sarah EM
,
Valence, Stéphanie
,
de Villemeur, Thierry Billette
,
Wood, Amanda
,
Anderson, Vicki
,
Sherr, Elliott H
Published in
Developmental medicine and child neurology
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Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update
by
Stephenson, Sarah EM
,
Djaldetti, Ruth
,
Rafehi, Haloom
,
Wilson, Gabrielle R.
,
Gillies, Greta
,
Bahlo, Melanie
,
Lockhart, Paul J.
Published in
Parkinsonism & related disorders
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HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia
by
Delatycki, Martin B.
,
Tai, Geneieve
,
Corben, Louise
,
Yiu, Eppie M.
,
Evans-Galea, Marguerite V.
,
Stephenson, Sarah E.M.
,
Gurrin, Lyle
,
Allen, Katrina J.
,
Lynch, David
,
Lockhart, Paul J.
Published in
Movement disorders
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ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible
by
DELATYCKI, Martin B
,
WOLTHUIZEN, Michelle
,
WILSON, Gabrielle R
,
STEPHENSON, Sarah Em
,
MACCIOCCA, Ivan
,
HICKERTON, Chriselle
,
LOCKHART, Paul J
,
METCALFE, Sylvia A
,
COLLINS, Veronica
,
VARLEY, Elizabeth
,
CRAVEN, Joanna
,
ALLEN, Katrina J
,
GURRIN, Lyle C
,
AITKEN, Maryanne
,
KAYE TREMBATH, M
,
BOND, Lyndal
Published in
European journal of human genetics : EJHG
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Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with [alpha]-Synuclein Pathology
by
Wilson, Gabrielle R
,
Sim, Joe CH
,
McLean, Catriona
,
Giannandrea, Maila
,
Galea, Charles A
,
Riseley, Jessica R
,
Stephenson, Sarah EM
,
Fitzpatrick, Elizabeth
,
Haas, Stefan A
,
Pope, Kate
,
Hogan, Kirk J
,
Gregg, Ronald G
,
Bromhead, Catherine J
,
Wargowski, David S
,
Lawrence, Christopher H
,
James, Paul A
,
Churchyard, Andrew
,
Gao, Yujing
,
Phelan, Dean G
,
Gillies, Greta
,
Salce, Nicholas
,
Stanford, Lynn
,
Marsh, Ashley PL
,
Mignogna, Maria L
,
Hayflick, Susan J
,
Leventer, Richard J
,
Delatycki, Martin B
,
Mellick, George D
,
Kalscheuer, Vera M
,
D'Adamo, Patrizia
,
Bahlo, Melanie
,
Amor, David J
,
Lockhart, Paul J
Published in
American journal of human genetics
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