Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system von Marti-Sanchez, L, Ortigoza-Escobar, J D, Darling, A, Villaronga, M, Baide, H, Molero-Luis, M, Batllori, M, Vanegas, M I, Muchart, J, Aquino, L, Artuch, R, Macaya, A, Kurian, M A, Dueñas, Pérez

Volltext

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN) von KURIAN, M. A, MORGAN, N. V, ROSSER, E. M, WASSMER, E, GISSEN, P, MAHER, E. R, MACPHERSON, L, FOSTER, K, PEAKE, D, GUPTA, R, PHILIP, S. G, HENDRIKSZ, C, MORTON, J. E. V, KINGSTON, H. M

Volltext

Clinical Features and Pharmacotherapy of Childhood Monoamine Neurotransmitter Disorders von Ng, J., Heales, S. J. R., Kurian, M. A.

Volltext

PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease von Illingworth, M.A., Meyer, E., Chong, W.K., Manzur, A.Y., Carr, L.J., Younis, R., Hardy, C., McDonald, F., Childs, A.M., Stewart, B., Warren, D., Kneen, R., King, M.D., Hayflick, S.J., Kurian, M.A.

Volltext

A case of treatable encephalopathy, developmental regression, and proximal tremor: Expert commentary von Kurian, M.A.

Volltext

Expanding the Spectrum of Early Neuroradiologic Findings in β Propeller Protein-Associated Neurodegeneration von Papandreou, A, Soo, A K S, Spaull, R, Mankad, K, Kurian, M A, Sudhakar, S

Volltext

Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B von Gorman, K.M., Meyer, E., Kurian, M.A.

Volltext

Promoter mutation is a common variant in GJC2-associated Pelizaeus–Merzbacher-like disease von Meyer, E., Kurian, M.A., Morgan, N.V., McNeill, A., Pasha, S., Tee, L., Younis, R., Norman, A., van der Knaap, M.S., Wassmer, E., Trembath, R.C., Brueton, L., Maher, E.R.

Volltext

Brain Abnormalities in Patients with Germline Variants in H3F3 : Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors von Alves, C A P F, Sherbini, O, D'Arco, F, Steel, D, Kurian, M A, Radio, F C, Ferrero, G B, Carli, D, Tartaglia, M, Balci, T B, Powell-Hamilton, N N, Schrier Vergano, S A, Reutter, H, Hoefele, J, Günthner, R, Roeder, E R, Littlejohn, R O, Lessel, D, Lüttgen, S, Kentros, C, Anyane-Yeboa, K, Catarino, C B, Mercimek-Andrews, S, Denecke, J, Lyons, M J, Klopstock, T, Bhoj, E J, Bryant, L, Vanderver, A

Volltext

A review of psychiatric co-morbidity described in genetic and immune mediated movement disorders von Peall, K.J., Lorentzos, M.S., Heyman, I., Tijssen, M.A.J., Owen, M.J., Dale, R.C., Kurian, M.A.

Volltext

Straight‐chain acyl‐CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic‐type regression and a selective pattern of leukodystrophy von Kurian, M. A., Ryan, S., Besley, G. T. N., Wanders, R. J. A., King, M. D.

Volltext

Short-Chain Acyl-CoA Dehydrogenase Deficiency Associated with Early Onset Severe Axonal Neuropathy von Kurian, M. A., Hartley, L., Zolkipli, Z., Little, M. A., Costigan, D., Naughten, E. R., Olpin, S., Muntoni, F., King, M. D.

Volltext

An Unusual Case of Benign Reflex Myoclonic Epilepsy of Infancy von Kurian, M. A., King, M. D.

Volltext

Antibody positive myasthenia gravis following treatment with carbamazepine--a chance association? von Kurian, M A, King, M D

Volltext

Mouse models for inherited monoamine neurotransmitter disorders von Thöny, Beat, Ng, Joanne, Kurian, Manju A., Mills, Philippa, Martinez, Aurora

Volltext

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis von Martin, Hilary C, Kim, Grace E, Pagnamenta, Alistair T, Murakami, Yoshiko, Carvill, Gemma L, Meyer, Esther, Copley, Richard R, Rimmer, Andrew, Barcia, Giulia, Fleming, Matthew R, Kronengold, Jack, Brown, Maile R, Hudspith, Karl A, Broxholme, John, Kanapin, Alexander, Cazier, Jean-Baptiste, Kinoshita, Taroh, Nabbout, Rima, Bentley, David, McVean, Gil, Heavin, Sinéad, Zaiwalla, Zenobia, McShane, Tony, Mefford, Heather C, Shears, Deborah, Stewart, Helen, Kurian, Manju A, Scheffer, Ingrid E, Blair, Edward, Donnelly, Peter, Kaczmarek, Leonard K, Taylor, Jenny C

Volltext

Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency von Kurian, M.A, O'Mahoney, E.S, Rustin, P, Brown, G, Treacy, E.P, King, M.D

Volltext

New approaches to paediatric epilepsy von Kurian, MA

Volltext

Structural mapping of GABRB3 variants reveals genotype–phenotype correlations von Johannesen, Katrine M., Iqbal, Sumaiya, Guazzi, Milena, Mohammadi, Nazanin A., Pérez-Palma, Eduardo, Schaefer, Elise, De Saint Martin, Anne, Abiwarde, Marie Therese, McTague, Amy, Pons, Roser, Piton, Amelie, Kurian, Manju A., Ambegaonkar, Gautam, Firth, Helen, Sanchis-Juan, Alba, Deprez, Marie, Jansen, Katrien, De Waele, Liesbeth, Briltra, Eva H., Verbeek, Nienke E., van Kempen, Marjan, Fazeli, Walid, Striano, Pasquale, Zara, Federico, Visser, Gerhard, Braakman, Hilde M.H., Haeusler, Martin, Elbracht, Miriam, Vaher, Ulvi, Smol, Thomas, Lemke, Johannes R., Platzer, Konrad, Kennedy, Joanna, Klein, Karl Martin, Au, Ping Yee Billie, Smyth, Kimberly, Kaplan, Julie, Thomas, Morgan, Dewenter, Malin K., Dinopoulos, Argirios, Campbell, Arthur J., Lal, Dennis, Lederer, Damien, Liao, Vivian W.Y., Ahring, Philip K., Møller, Rikke S., Gardella, Elena

Volltext

PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine von GARDINER, Alice R, BHATIA, Kailash P, VALENTE, Enza-Maria, SILVEIRA-MORIYAMA, Laura, TEIVE, Hélio A. G, RASKIN, Salmo, SANDER, Josemir W, LEES, Andrew, WARNER, Tom, KULLMANN, Dimitri M, WOOD, Nicholas W, HANNA, Michael, STAMELOU, Maria, HOULDEN, Henry, DALE, Russell C, KURIAN, Manju A, SCHNEIDER, Susanne A, WALI, G. M, COUNIHAN, Tim, SCHAPIRA, Anthony H, SPACEY, Sian D

Volltext