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Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology.
Published in:
Movement Disorders Clinical Practice, 2024, v. 11, n. 9, p. 1149, doi. 10.1002/mdc3.14164
By:
- Salazar‐Villacorta, Ainara;
- Spaull, Robert;
- Chowdhury, Samyami;
- Mukhtyar, Bina;
- Chitre, Manali;
- Armstrong, Ruth;
- Sa, Mario;
- Chandratre, Saleel;
- Kini, Usha;
- Chinthapalli, Ravi;
- Mankad, Kshitij;
- Sudhakar, Sniya;
- Pope, Simon;
- Heales, Simon;
- Kurian, Manju A.
Publication type:
Article
Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
Published in:
Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 708, doi. 10.1002/mdc3.14051
By:
- Komulainen‐Ebrahim, Jonna;
- Kangas, Salla M.;
- López‐Martín, Estrella;
- Feyma, Timothy;
- Scaglia, Fernando;
- Martínez‐Delgado, Beatriz;
- Kuismin, Outi;
- Suo‐Palosaari, Maria;
- Carr, Lucinda;
- Hinttala, Reetta;
- Kurian, Manju A.;
- Uusimaa, Johanna
Publication type:
Article
Transition Services for Children and Young Adults with Movement Disorders: A Survey by the MDS Task Force on Pediatrics.
Published in:
Movement Disorders Clinical Practice, 2022, v. 9, n. 7, p. 972, doi. 10.1002/mdc3.13549
By:
- Batla, Amit;
- Lin, Jean‐Pierre;
- Sahu, Jitendra K.;
- Mink, Jonathan W.;
- Pringsheim, Tamara;
- Roze, Emmanuel;
- Kurian, Manju;
- Fung, Victor
Publication type:
Article
Freezing of Gait as a Complication of Pallidal Deep Brain Stimulation in DYT‐KMT2B Patients with Evidence of Striatonigral Degeneration.
Published in:
Movement Disorders Clinical Practice, 2022, v. 9, n. 7, p. 992, doi. 10.1002/mdc3.13519
By:
- Cif, Laura;
- Demailly, Diane;
- Vasques, Xavier;
- Verbizier, Delphine de;
- Coubes, Philippe;
- Gorman, Kathleen;
- Kurian, Manju A.
Publication type:
Article
STXBP1 Stop‐Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy.
Published in:
Movement Disorders Clinical Practice, 2022, v. 9, n. 6, p. 837, doi. 10.1002/mdc3.13509
By:
- Spaull, Robert;
- Steel, Dora;
- Barwick, Katy;
- Prabhakar, Prab;
- Wakeling, Emma;
- Kurian, Manju A.
Publication type:
Article
Commentary: Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.
Published in:
Movement Disorders Clinical Practice, 2021, v. 8, p. S40, doi. 10.1002/mdc3.13304
By:
- Friedman, Jennifer;
- Lucas‐Del‐Pozo, Sara;
- Moreno‐Martinez, David;
- Camprodon‐Gomez, Maria;
- Moreno‐Martinez, Daniel;
- Hernandez‐Vara, Jorge;
- Kurian, Manju A.
Publication type:
Article
Commentary: GM1‐Gangliosidosis Type III Associated Parkinsonism.
Published in:
Movement Disorders Clinical Practice, 2021, v. 8, p. S24, doi. 10.1002/mdc3.13301
By:
- Kurian, Manju A.;
- Kaiyrzhanov, Rauan;
- Allahyarova, Parvin;
- Guliyeva, Ulviyya;
- Gulieva, Sughra;
- Salayev, Kamran;
- Mursalova, Aytan;
- Ferla, Matteo P.;
- Houlden, Henry;
- Cardoso, Francisco
Publication type:
Article
Early Ataxia and Subsequent Parkinsonism: PLA2G6 Mutations Cause a Continuum Rather Than Three Discrete Phenotypes.
Published in:
Movement Disorders Clinical Practice, 2017, v. 4, n. 1, p. 125, doi. 10.1002/mdc3.12319
By:
- Erro, Roberto;
- Balint, Bettina;
- Kurian, Manju A.;
- Brugger, Florian;
- Picillo, Marina;
- Barone, Paolo;
- Bhatia, Kailash P.;
- Pellecchia, Maria Teresa
Publication type:
Article
WDR45 Mutation in Atypical Rett Syndrome with Brain Iron Accumulation.
Published in:
Movement Disorders Clinical Practice, 2015, v. 2, n. 1, p. 81, doi. 10.1002/mdc3.12120
By:
- Crisp, Sarah J.;
- Meyer, Esther;
- Gregory, Allison;
- Archer, Hayley;
- Hayflick, Susan;
- Kurian, Manju A.;
- Silva, Rajith
Publication type:
Article
Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.
Published in:
Journal of Child Neurology, 2019, v. 34, n. 8, p. 472, doi. 10.1177/0883073819840449
By:
- MacLennan, Alastair H.;
- Lewis, Sara;
- Moreno-De-Luca, Andres;
- Fahey, Michael;
- Leventer, Richard J.;
- McIntyre, Sarah;
- Ben-Pazi, Hilla;
- Corbett, Mark;
- Wang, Xiaoyang;
- Baynam, Gareth;
- Fehlings, Darcy;
- Kurian, Manju A.;
- Zhu, Changlian;
- Himmelmann, Kate;
- Smithers-Sheedy, Hayley;
- Wilson, Yana;
- Ocaña, Carlos Santos;
- van Eyk, Clare;
- Badawi, Nadia;
- Wintle, Richard F.
Publication type:
Article
Utility of Induced Pluripotent Stem Cells for the Study and Treatment of Genetic Diseases: Focus on Childhood Neurological Disorders.
Published in:
Frontiers in Molecular Neuroscience, 2016, p. 1, doi. 10.3389/fnmol.2016.00078
By:
- Barral, Serena;
- Kurian, Manju A.
Publication type:
Article
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Published in:
2017
By:
- Wassenberg, Tessa;
- Molero-Luis, Marta;
- Jeltsch, Kathrin;
- Hoffmann, Georg F.;
- Assmann, Birgit;
- Blau, Nenad;
- Garcia-Cazorla, Angeles;
- Artuch, Rafael;
- Pons, Roser;
- Pearson, Toni S.;
- Leuzzi, Vincenco;
- Mastrangelo, Mario;
- Pearl, Phillip L.;
- Wang Tso Lee;
- Kurian, Manju A.;
- Heales, Simon;
- Flint, Lisa;
- Verbeek, Marcel;
- Willemsen, Michèl;
- Opladen, Thomas
Publication type:
journal article
Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 2023, doi. 10.1093/brain/awae020
By:
- Abela, Lucia;
- Gianfrancesco, Lorita;
- Tagliatti, Erica;
- Rossignoli, Giada;
- Barwick, Katy;
- Zourray, Clara;
- Reid, Kimberley M;
- Budinger, Dimitri;
- Ng, Joanne;
- Counsell, John;
- Simpson, Arlo;
- Pearson, Toni S;
- Edvardson, Simon;
- Elpeleg, Orly;
- Brodsky, Frances M;
- Lignani, Gabriele;
- Barral, Serena;
- Kurian, Manju A
Publication type:
Article
HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.
Published in:
2021
By:
- Monfrini, Edoardo;
- Zech, Michael;
- Steel, Dora;
- Kurian, Manju A;
- Winkelmann, Juliane;
- Fonzo, Alessio Di;
- Di Fonzo, Alessio
Publication type:
journal article
Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies.
Published in:
2021
By:
- Rossignoli, Giada;
- Krämer, Karolin;
- Lugarà, Eleonora;
- Alrashidi, Haya;
- Pope, Simon;
- Barrigon, Carmen De La Fuente;
- Barwick, Katy;
- Bisello, Giovanni;
- Ng, Joanne;
- Counsell, John;
- Lignani, Gabriele;
- Heales, Simon J R;
- Bertoldi, Mariarita;
- Barral, Serena;
- Kurian, Manju A;
- De La Fuente Barrigon, Carmen
Publication type:
journal article
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Published in:
2015
By:
- Gardiner, Alice R.;
- Jaffer, Fatima;
- Dale, Russell C.;
- Labrum, Robyn;
- Erro, Roberto;
- Meyer, Esther;
- Xiromerisiou, Georgia;
- Stamelou, Maria;
- Walker, Matthew;
- Kullmann, Dimitri;
- Warner, Tom;
- Jarman, Paul;
- Hanna, Mike;
- Kurian, Manju A.;
- Bhatia, Kailash P.;
- Houlden, Henry
Publication type:
journal article
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
Published in:
Epilepsia (Series 4), 2012, v. 53, n. 8, p. e146, doi. 10.1111/j.1528-1167.2012.03538.x
By:
- Poduri, Annapurna;
- Chopra, Sameer S.;
- Neilan, Edward G.;
- Christina Elhosary, P.;
- Kurian, Manju A.;
- Meyer, Esther;
- Barry, Brenda J.;
- Khwaja, Omar S.;
- Salih, Mustafa A. M.;
- Stödberg, Tommy;
- Scheffer, Ingrid E.;
- Maher, Eamonn R.;
- Sahin, Mustafa;
- Wu, Bai-Lin;
- Berry, Gerard T.;
- Walsh, Christopher A.;
- Picker, Jonathan;
- Kothare, Sanjeev V.
Publication type:
Article
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.
Published in:
2009
By:
- Kurian, Manju A.;
- Juan Zhen;
- Shu-Yuan Cheng;
- Yan Li;
- Mordekar, Santosh R.;
- Jardine, Philip;
- Morgan, Neil V.;
- Meyer, Esther;
- Tee, Louise;
- Pasha, Shanaz;
- Wassmer, Evangeline;
- Heales, Simon J. R.;
- Gissen, Paul;
- Reith, Maarten E. A.;
- Maher, Eamonn R.;
- Zhen, Juan;
- Cheng, Shu-Yuan;
- Li, Yan
Publication type:
journal article
Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia.
Published in:
eLife, 2021, p. 1, doi. 10.7554/eLife.68039
By:
- Aguilar, Jenny I.;
- Cheng, Mary Hongying;
- Font, Josep;
- Schwartz, Alexandra C.;
- Ledwitch, Kaitlyn;
- Duran, Amanda;
- Mabry, Samuel J.;
- Belovich, Andrea N;
- Zhu, Yanqi;
- Carter, Angela M.;
- Shi, Lei;
- Kurian, Manju A.;
- Fenollar-Ferrer, Cristina;
- Meiler, Jens;
- Ryan, Renae Monique;
- Mchaourab, Hassane S.;
- Bahar, Ivet;
- Matthies, Heinrich J. G.;
- Galli, Aurelio
Publication type:
Article
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1923
By:
- Grosz, Bianca R.;
- Tisch, Stephen;
- Tchan, Michel C.;
- Fung, Victor S. C.;
- Darveniza, Paul;
- Fellner, Avi;
- Kurian, Manju A.;
- McLean, Alison;
- Tomlinson, Susan E.;
- Smyth, Renee;
- Devery, Sophie;
- Wu, Kathy H. C.;
- Kennerson, Marina L.;
- Kumar, Kishore R.
Publication type:
Article
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1106
By:
- Sanchis‐Juan, Alba;
- Hasenahuer, Marcia A.;
- Baker, James A.;
- McTague, Amy;
- Barwick, Katy;
- Kurian, Manju A.;
- Duarte, Sofia T.;
- Carss, Keren J.;
- Thornton, Janet;
- Raymond, F. Lucy
Publication type:
Article
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25515-5
By:
- Hübschmann, Oya Kuseyri;
- Horvath, Gabriella;
- Cortès-Saladelafont, Elisenda;
- Yıldız, Yılmaz;
- Mastrangelo, Mario;
- Pons, Roser;
- Friedman, Jennifer;
- Mercimek-Andrews, Saadet;
- Suet-Na Wong;
- Pearson, Toni S.;
- Zafeiriou, Dimitrios I.;
- Kulhánek, Jan;
- Kurian, Manju A.;
- López-Laso, Eduardo;
- Oppebøen, Mari;
- Kılavuz, Sebile;
- Wassenberg, Tessa;
- Goez, Helly;
- Scholl-Bürgi, Sabine;
- Porta, Francesco
Publication type:
Article
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele‐de Vries syndrome).
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2129, doi. 10.1002/ajmg.a.61731
By:
- Carminho‐Rodrigues, Maria Teresa;
- Steel, Dora;
- Sousa, Sergio B.;
- Brandt, Gregor;
- Guipponi, Michel;
- Laurent, Sacha;
- Fokstuen, Siv;
- Moren, Aurea;
- Zacharia, André;
- Dirren, Elisabeth;
- Oliveira, Renata;
- Kurian, Manju A.;
- Burkhard, Pierre R.;
- Bally, Julien F.
Publication type:
Article
Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in <italic>WDR45</italic> in NBIA patient.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1049, doi. 10.1002/ajmg.a.38656
By:
- Willoughby, Josh;
- Duff‐Farrier, Celia;
- Desurkar, Archana;
- Kurian, Manju;
- Raghavan, Ashok;
- DDD Study;
- Balasubramanian, Meena
Publication type:
Article
Familial Recurrences of FOXG1-Related Disorder: Evidence for Mosaicism.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3096, doi. 10.1002/ajmg.a.37353
By:
- McMahon, Kelly Q.;
- Papandreou, Apostolos;
- Ma, Mandy;
- Barry, Brenda J.;
- Mirzaa, Ghayda M.;
- Dobyns, William B.;
- Scott, Richard H.;
- Trump, Natalie;
- Kurian, Manju A.;
- Paciorkowski, Alex R.
Publication type:
Article
Phenotypes, genotypes, and the management of paroxysmal movement disorders.
Published in:
2018
By:
- Silveira‐Moriyama, Laura;
- Kovac, Stjepana;
- Kurian, Manju A.;
- Houlden, Henry;
- Lees, Andrew J.;
- Walker, Matthew C.;
- Roze, Emmanuel;
- Paciorkowski, Alex R.;
- Mink, Jonathan W.;
- Warner, Thomas T.;
- Silveira-Moriyama, Laura
Publication type:
journal article
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
Published in:
2016
By:
- Papandreou, Apostolos;
- McTague, Amy;
- Trump, Natalie;
- Ambegaonkar, Gautam;
- Ngoh, Adeline;
- Meyer, Esther;
- Scott, Richard H;
- Kurian, Manju A
Publication type:
journal article
Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum.
Published in:
Developmental Medicine & Child Neurology, 2014, v. 56, n. 11, p. 1124, doi. 10.1111/dmcn.12450
By:
- Ngoh, Adeline;
- McTague, Amy;
- Wentzensen, Ingrid M;
- Meyer, Esther;
- Applegate, Carolyn;
- Kossoff, Eric H;
- Batista, Denise A;
- Wang, Tao;
- Kurian, Manju A
Publication type:
Article
Genetic disorders of thyroid metabolism and brain development.
Published in:
2014
By:
- Kurian, Manju A;
- Jungbluth, Heinz
Publication type:
journal article
Genetic disorders of thyroid metabolism and brain development.
Published in:
Developmental Medicine & Child Neurology, 2014, v. 56, n. 7, p. 627, doi. 10.1111/dmcn.12445
By:
- Kurian, Manju A;
- Jungbluth, Heinz
Publication type:
Article
Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.
Published in:
Developmental Medicine & Child Neurology, 2014, v. 56, n. 7, p. 642, doi. 10.1111/dmcn.12323
By:
- Peall, Kathryn J;
- Lumsden, Daniel;
- Kneen, Rachel;
- Madhu, Rajesh;
- Peake, Deirdre;
- Gibbon, Frances;
- Lewis, Hilary;
- Hedderly, Tammy;
- Meyer, Esther;
- Robb, Stephanie A;
- Lynch, Bryan;
- King, Mary D;
- Lin, Jean‐Pierre;
- Morris, Huw R;
- Jungbluth, Heinz;
- Kurian, Manju A
Publication type:
Article
Infantile neuroaxonal dystrophy caused by uniparental disomy.
Published in:
Developmental Medicine & Child Neurology, 2014, v. 56, n. 4, p. 386, doi. 10.1111/dmcn.12327
By:
- Solomons, Joyce;
- Ridgway, Oliver;
- Hardy, Carol;
- Kurian, Manju;
- Jayawant, Sandeep;
- Hughes, Sarah;
- Pretorius, Pieter;
- Németh, Andrea H
Publication type:
Article
What is the role of dopamine in childhood neurological disorders?
Published in:
Developmental Medicine & Child Neurology, 2013, v. 55, n. 6, p. 493, doi. 10.1111/dmcn.12130
By:
- Kurian, Manju A
Publication type:
Article
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.
Published in:
2013
By:
- Silveira-Moriyama, Laura;
- Gardiner, Alice R;
- Meyer, Esther;
- King, Mary D;
- Smith, Martin;
- Rakshi, Karl;
- Parker, Alasdair;
- Mallick, Andrew A;
- Brown, Richard;
- Vassallo, Grace;
- Jardine, Philip E;
- Guerreiro, Marilisa M;
- Lees, Andrew J;
- Houlden, Henry;
- Kurian, Manju A
Publication type:
journal article
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT 2 gene mutations.
Published in:
Developmental Medicine & Child Neurology, 2013, v. 55, n. 4, p. 327, doi. 10.1111/dmcn.12056
By:
- Silveira‐Moriyama, Laura;
- Gardiner, Alice R;
- Meyer, Esther;
- King, Mary D;
- Smith, Martin;
- Rakshi, Karl;
- Parker, Alasdair;
- Mallick, Andrew A;
- Brown, Richard;
- Vassallo, Grace;
- Jardine, Philip E;
- Guerreiro, Marilisa M;
- Lees, Andrew J;
- Houlden, Henry;
- Kurian, Manju A
Publication type:
Article
The clinical utility of chromosomal microarray in childhood neurological disorders.
Published in:
Developmental Medicine & Child Neurology, 2012, v. 54, n. 7, p. 582, doi. 10.1111/j.1469-8749.2012.04304.x
By:
- KURIAN, MANJU A
Publication type:
Article
Elevated VGKC-complex antibodies in a boy with fever-induced refractory epileptic encephalopathy in school-age children (FIRES).
Published in:
Developmental Medicine & Child Neurology, 2011, v. 53, n. 11, p. 1053, doi. 10.1111/j.1469-8749.2011.04008.x
By:
- ILLINGWORTH, MARJORIE A;
- HANRAHAN, DONNCHA;
- ANDERSON, CLAIRE E;
- O'KANE, KATHRYN;
- ANDERSON, JENNIFER;
- CASEY, MAUREEN;
- de SOUSA, CARLOS;
- CROSS, J HELEN;
- WRIGHT, SUKVHIR;
- DALE, RUSSELL C;
- VINCENT, ANGELA;
- KURIAN, MANJU A
Publication type:
Article
Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).
Published in:
Developmental Medicine & Child Neurology, 2011, v. 53, n. 5, p. 394, doi. 10.1111/j.1469-8749.2011.03955.x
By:
- KURIAN, MANJU A.;
- MCNEILL, ALASDAIR;
- LIN, JEAN-PIERRE;
- MAHER, EAMONN R.
Publication type:
Article
Mixed cerium nanooxides as efficient and selective C-alkylation catalysts for gas phase methylation of phenol.
Published in:
Journal of Chemical Sciences, 2020, v. 132, n. 1, p. 1, doi. 10.1007/s12039-020-1757-8
By:
- Kunjachan, Christy;
- Kurian, Manju
Publication type:
Article
Manganese zinc ferrite nanoparticles as efficient catalysts for wet peroxide oxidation of organic aqueous wastes.
Published in:
Journal of Chemical Sciences, 2015, v. 127, n. 3, p. 537, doi. 10.1007/s12039-015-0806-1
By:
- KURIAN, MANJU;
- NAIR, DIVYA
Publication type:
Article
Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms.
Published in:
Life Science Alliance, 2022, v. 5, n. 12, p. 1, doi. 10.26508/lsa.202101284
By:
- Nolden, Kelsey A.;
- Egner, John M.;
- Collier, Jack J.;
- Russell, Oliver M.;
- Alston, Charlotte L.;
- Harwig, Megan C.;
- Widlansky, Michael E.;
- Sasorith, Souphatta;
- Barbosa, Inês A.;
- Douglas, Andrew G. L.;
- Baptista, Julia;
- Walker, Mark;
- Donnelly, Deirdre E.;
- Morris, Andrew A.;
- Hui Jeen Tan;
- Kurian, Manju A.;
- Gorman, Kathleen;
- Mordekar, Santosh;
- Deshpande, Charu;
- Samanta, Rajib
Publication type:
Article
Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation.
Published in:
Tremor & Other Hyperkinetic Movements, 2021, v. 11, p. 1, doi. 10.5334/tohm.661
By:
- SPAULL, ROBERT V. V.;
- SOO, AUDREY K. S.;
- HOGARTH, PENELOPE;
- HAYFLICK, SUSAN J.;
- KURIAN, MANJU A.
Publication type:
Article
Electrophysiological Properties of Human Cortical Organoids: Current State of the Art and Future Directions.
Published in:
Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.839366
By:
- Zourray, Clara;
- Kurian, Manju A.;
- Barral, Serena;
- Lignani, Gabriele
Publication type:
Article
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
Published in:
2013
By:
- Hayflick, Susan J;
- Kruer, Michael C;
- Gregory, Allison;
- Haack, Tobias B;
- Kurian, Manju A;
- Houlden, Henry H;
- Anderson, James;
- Boddaert, Nathalie;
- Sanford, Lynn;
- Harik, Sami I;
- Dandu, Vasuki H;
- Nardocci, Nardo;
- Zorzi, Giovanna;
- Dunaway, Todd;
- Tarnopolsky, Mark;
- Skinner, Steven;
- Holden, Kenton R;
- Frucht, Steven;
- Hanspal, Era;
- Schrander-Stumpel, Connie
Publication type:
journal article
Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 6, p. 1708, doi. 10.1093/brain/awt095
By:
- Hayflick, Susan J.;
- Kruer, Michael C.;
- Gregory, Allison;
- Haack, Tobias B.;
- Kurian, Manju A.;
- Houlden, Henry H.;
- Anderson, James;
- Boddaert, Nathalie;
- Sanford, Lynn;
- Harik, Sami I.;
- Dandu, Vasuki H.;
- Nardocci, Nardo;
- Zorzi, Giovanna;
- Dunaway, Todd;
- Tarnopolsky, Mark;
- Skinner, Steven;
- Holden, Kenton R.;
- Frucht, Steven;
- Hanspal, Era;
- Schrander-Stumpel, Connie
Publication type:
Article
SGCE mutations cause psychiatric disorders: clinical and genetic characterization.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 294, doi. 10.1093/brain/aws308
By:
- Peall, Kathryn J.;
- Smith, Daniel J.;
- Kurian, Manju A.;
- Wardle, Mark;
- Waite, Adrian J.;
- Hedderly, Tammy;
- Lin, Jean-Pierre;
- Smith, Martin;
- Whone, Alan;
- Pall, Hardev;
- White, Cathy;
- Lux, Andrew;
- Jardine, Philip;
- Bajaj, Narinder;
- Lynch, Bryan;
- Kirov, George;
- O’Riordan, Sean;
- Samuel, Michael;
- Lynch, Timothy;
- King, Mary D.
Publication type:
Article
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy.
Published in:
Brain: A Journal of Neurology, 2010, v. 133, n. 10, p. 2964, doi. 10.1093/brain/awq238
By:
- Kurian, Manju A.;
- Meyer, Esther;
- Vassallo, Grace;
- Morgan, Neil V.;
- Prakash, Nandhini;
- Pasha, Shanaz;
- Hai, Nebula A.;
- Shuib, Salwati;
- Rahman, Fatima;
- Wassmer, Evangeline;
- Cross, J. Helen;
- O'Callaghan, Finbar J.;
- Osborne, John P.;
- Scheffer, Ingrid E.;
- Gissen, Paul;
- Maher, Eamonn R.
Publication type:
Article
RARS2 mutations in a sibship with infantile spasms.
Published in:
Epilepsia (Series 4), 2016, v. 57, n. 5, p. e97, doi. 10.1111/epi.13358
By:
- Ngoh, Adeline;
- Bras, Jose;
- Guerreiro, Rita;
- Meyer, Esther;
- McTague, Amy;
- Dawson, Eleanor;
- Mankad, Kshitij;
- Gunny, Roxana;
- Clayton, Peter;
- Mills, Philippa B.;
- Thornton, Rachel;
- Lai, Ming;
- Forsyth, Robert;
- Kurian, Manju A.
Publication type:
Article
Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.
Published in:
Turkish Journal of Pediatrics, 2009, v. 51, n. 2, p. 161
By:
- Cangül, Hakan;
- Özdemir, Özlem;
- Yakut, Tahsin;
- Okan, Mehmet;
- Morgan, Neil V.;
- Baytan, Birol;
- Kurian, Manju A.;
- Spiegel, Ronald;
- Maher, Eamonn R.
Publication type:
Article
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.
Published in:
Journal of Clinical Investigation, 2015, v. 125, n. 4, p. 1670, doi. 10.1172/JCI79765
By:
- Baker, Kate;
- Gordon, Sarah L.;
- Grozeva, Detelina;
- van Kogelenberg, Margriet;
- Roberts, Nicola Y.;
- Pike, Michael;
- Blair, Edward;
- Hurles, Matthew E.;
- Chong, W. Kling;
- Baldeweg, Torsten;
- Kurian, Manju A.;
- Boyd, Stewart G.;
- Cousin, Michael A.;
- Raymond, F. Lucy
Publication type:
Article

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