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Steroid‐responsive aseptic meningitis with raised intracranial pressure syndrome associated with myelin oligodendrocyte glycoprotein autoantibodies.
Published in:
Journal of Paediatrics & Child Health, 2022, v. 58, n. 12, p. 2322, doi. 10.1111/jpc.16189
By:
- Wong, Wui‐Kwan;
- Troedson, Christopher;
- Peacock, Ken;
- Brilot‐Turville, Fabienne;
- Menezes, Manoj P;
- Dale, Russell C;
- Webster, Richard
Publication type:
Article
Inherited neuromuscular disorders: Pathway to diagnosis.
Published in:
Journal of Paediatrics & Child Health, 2012, v. 48, n. 6, p. 458, doi. 10.1111/j.1440-1754.2011.02210.x
By:
- Menezes, Manoj P;
- North, Kathryn N
Publication type:
Article
Feasibility of designing, manufacturing and delivering 3D printed ankle-foot orthoses: a systematic review.
Published in:
Journal of Foot & Ankle Research, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13047-019-0321-6
By:
- Wojciechowski, Elizabeth;
- Chang, Angela Y.;
- Balassone, Daniel;
- Ford, Jacqueline;
- Cheng, Tegan L.;
- Little, David;
- Menezes, Manoj P.;
- Hogan, Sean;
- Burns, Joshua
Publication type:
Article
CSF neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in FIRES and other infection‐triggered encephalopathy syndromes.
Published in:
Annals of Clinical & Translational Neurology, 2023, v. 10, n. 8, p. 1417, doi. 10.1002/acn3.51832
By:
- Dale, Russell C.;
- Thomas, Terrence;
- Patel, Shrujna;
- Han, Velda X.;
- Kothur, Kavitha;
- Troedson, Christopher;
- Gupta, Sachin;
- Gill, Deepak;
- Malone, Stephen;
- Waak, Michaela;
- Calvert, Sophie;
- Subramanian, Gopinath;
- Andrews, P. Ian;
- Kandula, Tejaswi;
- Menezes, Manoj P.;
- Ardern‐Holmes, Simone;
- Mohammad, Shekeeb;
- Bandodkar, Sushil;
- Yan, Jingya
Publication type:
Article
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 9, p. 1713, doi. 10.1002/acn3.51145
By:
- Cornett, Kayla M. D.;
- Menezes, Manoj P.;
- Bray, Paula;
- Shy, Rosemary R.;
- Moroni, Isabella;
- Pagliano, Emanuela;
- Pareyson, Davide;
- Estilow, Tim;
- Yum, Sabrina W.;
- Bhandari, Trupti;
- Muntoni, Francesco;
- Laura, Matilde;
- Reilly, Mary M.;
- Finkel, Richard S.;
- Eichinger, Katy J.;
- Herrmann, David N.;
- Shy, Michael E.;
- Burns, Joshua
Publication type:
Article
Natural history of Charcot-Marie-Tooth disease during childhood.
Published in:
2017
By:
- Cornett, Kayla M.D.;
- Menezes, Manoj P.;
- Shy, Rosemary R.;
- Moroni, Isabella;
- Pagliano, Emanuela;
- Pareyson, Davide;
- Estilow, Timothy;
- Yum, Sabrina W.;
- Bhandari, Trupti;
- Muntoni, Francesco;
- Laura, Matilde;
- Reilly, Mary M.;
- Finkel, Richard S.;
- Eichinger, Kate J.;
- Herrmann, David N.;
- Bray, Paula;
- Halaki, Mark;
- Shy, Michael E.;
- Burns, Joshua;
- Cornett, Kayla MD
Publication type:
journal article
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.
Published in:
PLoS Genetics, 2016, v. 12, n. 7, p. 1, doi. 10.1371/journal.pgen.1006177
By:
- Brewer, Megan H.;
- Chaudhry, Rabia;
- Qi, Jessica;
- Kidambi, Aditi;
- Drew, Alexander P.;
- Menezes, Manoj P.;
- Ryan, Monique M.;
- Farrar, Michelle A.;
- Mowat, David;
- Subramanian, Gopinath M.;
- Young, Helen K.;
- Zuchner, Stephan;
- Reddel, Stephen W.;
- Nicholson, Garth A.;
- Kennerson, Marina L.
Publication type:
Article
Advances in the management of Charcot-Marie-Tooth disease in childhood.
Published in:
2022
By:
- Menezes, Manoj P
Publication type:
editorial
Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.
Published in:
2016
By:
- Menezes, Manoj P;
- O'Brien, Katherine;
- Hill, Mandy;
- Webster, Richard;
- Antony, Jayne;
- Ouvrier, Robert;
- Birman, Catherine;
- Gardner‐Berry, Kirsty
Publication type:
journal article
Eye movement disorders are an early manifestation of CACNA1A mutations in children.
Published in:
2016
By:
- Tantsis, Esther M;
- Gill, Deepak;
- Griffiths, Lyn;
- Gupta, Sachin;
- Lawson, John;
- Maksemous, Neven;
- Ouvrier, Robert;
- Riant, Florence;
- Smith, Robert;
- Troedson, Christopher;
- Webster, Richard;
- Menezes, Manoj P
Publication type:
journal article
Peripheral neuropathy associated with mitochondrial disease in children.
Published in:
Developmental Medicine & Child Neurology, 2012, v. 54, n. 5, p. 407, doi. 10.1111/j.1469-8749.2012.04271.x
By:
- MENEZES, MANOJ P;
- OUVRIER, ROBERT A
Publication type:
Article
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 26, p. 5484, doi. 10.1093/hmg/dds393
By:
- Cederquist, Gustav Y.;
- Luchniak, Anna;
- Tischfield, Max A.;
- Peeva, Maya;
- Song, Yuyu;
- Menezes, Manoj P.;
- Chan, Wai-Man;
- Andrews, Caroline;
- Chew, Sheena;
- Jamieson, Robyn V.;
- Gomes, Lavier;
- Flaherty, Maree;
- Grant, Patricia Ellen;
- Gupta, Mohan L.;
- Engle, Elizabeth C.
Publication type:
Article
Exploring caregivers' attitudes and beliefs about nutrition and weight management for young people with Duchenne muscular dystrophy.
Published in:
Muscle & Nerve, 2024, v. 69, n. 4, p. 448, doi. 10.1002/mus.28062
By:
- Billich, Natassja;
- Bray, Paula;
- Truby, Helen;
- Evans, Maureen;
- Ryan, Monique M.;
- Carroll, Kate;
- de Valle, Katy;
- Villano, Daniella;
- Kornberg, Andrew;
- Sowerby, Bianca;
- Farrar, Michelle A.;
- Menezes, Manoj P.;
- Holland, Sandra;
- Lindeback, Rachel;
- Cairns, Anita;
- Davidson, Zoe E.
Publication type:
Article
Balance impairment in pediatric charcot-marie-tooth disease.
Published in:
2019
By:
- Estilow, Timothy;
- Glanzman, Allan M.;
- Burns, Joshua;
- Harrington, Ann;
- Cornett, Kayla;
- Menezes, Manoj P.;
- Shy, Rosemary;
- Moroni, Isabella;
- Pagliano, Emanuela;
- Pareyson, Davide;
- Bhandari, Trupti;
- Muntoni, Francesco;
- Laurá, Matilde;
- Reilly, Mary M.;
- Finkel, Richard S.;
- Eichinger, Kate J.;
- Herrmann, David N.;
- Troutman, Gregory;
- Bray, Paula;
- Halaki, Mark
Publication type:
journal article
Magnetic resonance imaging of the anterior compartment of the lower leg is a biomarker for weakness, disability, and impaired gait in childhood Charcot-Marie-Tooth disease.
Published in:
2019
By:
- Cornett, Kayla M. D.;
- Wojciechowski, Elizabeth;
- Sman, Amy D.;
- Walker, Terri;
- Menezes, Manoj P.;
- Bray, Paula;
- Halaki, Mark;
- Burns, Joshua;
- Sman, D.;
- Mandarakas, Melissa R.;
- Rose, Kristy J.;
- Baldwin, Jennifer;
- McKay, Marnee J.;
- Refshauge, Kathryn M.;
- Raymond, Jacqueline;
- Sampaio, Hugo;
- Mudge, Anita;
- Purcell, Leanne;
- Miller, Clare;
- Gray, Kelly
Publication type:
journal article
Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.
Published in:
2019
By:
- Mandarakas, Melissa R;
- Menezes, Manoj P;
- Rose, Kristy J;
- Shy, Rosemary;
- Eichinger, Kate;
- Foscan, Maria;
- Estilow, Timothy;
- Kennedy, Rachel;
- Herbert, Karen;
- Bray, Paula;
- Refshauge, Kathryn;
- Ryan, Monique M;
- Yiu, Eppie M;
- Farrar, Michelle;
- Sampaio, Hugo;
- Moroni, Isabella;
- Pagliano, Emanuela;
- Pareyson, Davide;
- Yum, Sabrina W;
- Herrmann, David N
Publication type:
journal article
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.
Published in:
2018
By:
- Mandarakas, Melissa R;
- Menezes, Manoj P;
- Rose, Kristy J;
- Shy, Rosemary;
- Eichinger, Kate;
- Foscan, Maria;
- Estilow, Timothy;
- Kennedy, Rachel;
- Herbert, Karen;
- Bray, Paula;
- Refshauge, Kathryn;
- Ryan, Monique M;
- Yiu, Eppie M;
- Farrar, Michelle;
- Sampaio, Hugo;
- Moroni, Isabella;
- Pagliano, Emanuela;
- Pareyson, Davide;
- Yum, Sabrina W;
- Herrmann, David N
Publication type:
journal article
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 1, p. 44, doi. 10.1093/brain/awt315
By:
- Foley, A. Reghan;
- Menezes, Manoj P.;
- Pandraud, Amelie;
- Gonzalez, Michael A.;
- Al-Odaib, Ahmad;
- Abrams, Alexander J.;
- Sugano, Kumiko;
- Yonezawa, Atsushi;
- Manzur, Adnan Y.;
- Burns, Joshua;
- Hughes, Imelda;
- McCullagh, B. Gary;
- Jungbluth, Heinz;
- Lim, Ming J.;
- Lin, Jean-Pierre;
- Megarbane, Andre;
- Urtizberea, J. Andoni;
- Shah, Ayaz H.;
- Antony, Jayne;
- Webster, Richard
Publication type:
Article
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.
Published in:
Nature Genetics, 2012, v. 44, n. 6, p. 704, doi. 10.1038/ng.2254
By:
- Wan, Jijun;
- Yourshaw, Michael;
- Mamsa, Hafsa;
- Rudnik-Schöneborn, Sabine;
- Menezes, Manoj P;
- Hong, Ji Eun;
- Leong, Derek W;
- Senderek, Jan;
- Salman, Michael S;
- Chitayat, David;
- Seeman, Pavel;
- von Moers, Arpad;
- Graul-Neumann, Luitgard;
- Kornberg, Andrew J;
- Castro-Gago, Manuel;
- Sobrido, María-Jesús;
- Sanefuji, Masafumi;
- Shieh, Perry B;
- Salamon, Noriko;
- Kim, Ronald C
Publication type:
Article
Development of a functional outcome measure for riboflavin transporter deficiency.
Published in:
Journal of the Peripheral Nervous System, 2024, v. 29, n. 2, p. 185, doi. 10.1111/jns.12619
By:
- Fennessy, Jack R.;
- Donlevy, Gabrielle A.;
- McKay, Marnee J.;
- Burns, Joshua;
- Cornett, Kayla M. D.;
- Menezes, Manoj P.
Publication type:
Article
Benefit of high‐dose oral riboflavin therapy in riboflavin transporter deficiency.
Published in:
Journal of the Peripheral Nervous System, 2023, v. 28, n. 3, p. 308, doi. 10.1111/jns.12587
By:
- Fennessy, Jack R.;
- Cornett, Kayla M. D.;
- Burns, Joshua;
- Menezes, Manoj P.
Publication type:
Article
Functional outcome measures for infantile Charcot‐Marie‐Tooth disease: a systematic review.
Published in:
Journal of the Peripheral Nervous System, 2018, v. 23, n. 2, p. 99, doi. 10.1111/jns.12258
By:
- Mandarakas, Melissa R.;
- Rose, Kristy J.;
- Sanmaneechai, Oranee;
- Menezes, Manoj P.;
- Refshauge, Kathryn M.;
- Burns, Joshua
Publication type:
Article
Established and novel measures of upper limb impairment in children with Charcot<bold>‐</bold>Marie<bold>‐</bold>tooth disease type 1A and riboflavin transporter deficiency type 2.
Published in:
Journal of the Peripheral Nervous System, 2018, v. 23, n. 1, p. 29, doi. 10.1111/jns.12245
By:
- Cornett, Kayla M. D.;
- Menezes, Manoj P.;
- Bray, Paula;
- Halaki, Mark;
- Burns, Joshua
Publication type:
Article
Systematic review of exercise for Charcot-Marie-Tooth disease.
Published in:
Journal of the Peripheral Nervous System, 2015, v. 20, n. 4, p. 347, doi. 10.1111/jns.12116
By:
- Sman, Amy D.;
- Hackett, Daniel;
- Fiatarone Singh, Maria;
- Fornusek, Ché;
- Menezes, Manoj P.;
- Burns, Joshua
Publication type:
Article
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.
Published in:
JAMA Neurology, 2016, v. 73, n. 6, p. 645, doi. 10.1001/jamaneurol.2016.0171
By:
- Cornett, Kayla M. D.;
- Menezes, Manoj P.;
- Bray, Paula;
- Halaki, Mark;
- Shy, Rosemary R.;
- Yum, Sabrina W.;
- Estilow, Timothy;
- Moroni, Isabella;
- Foscan, Maria;
- Pagliano, Emanuela;
- Pareyson, Davide;
- Laurá, Matilde;
- Bhandari, Trupti;
- Muntoni, Francesco;
- Reilly, Mary M.;
- Finkel, Richard S.;
- Sowden, Janet;
- Eichinger, Katy J.;
- Herrmann, David N.;
- Shy, Michael E.
Publication type:
Article
Reliability and sensitivity of radiographic measures of hip dysplasia in childhood Charcot-Marie-Tooth disease.
Published in:
Hip International, 2023, v. 33, n. 2, p. 323, doi. 10.1177/11207000211027591
By:
- Dwan, Leanne N;
- Gibbons, Paul;
- Jamil, Kamal;
- Little, David;
- Birke, Oliver;
- Menezes, Manoj P;
- Burns, Joshua
Publication type:
Article
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 12, p. 2084, doi. 10.1093/hmg/ddad035
By:
- Evesson, Frances J;
- Dziaduch, Gregory;
- Bryen, Samantha J;
- Moore, Francesca;
- Pittman, Sara;
- Devanapalli, Beena;
- Waddell, Leigh B;
- Ryan, Monique M;
- Menezes, Manoj P;
- Weihl, Conrad C;
- Tolun, Adviye Ayper;
- Zaidman, Craig;
- Young, Helen;
- Adès, Lesley C;
- Cooper, Sandra T
Publication type:
Article

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