GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy

מאת Lynch, David S., Chelban, Viorica, Vandrovcova, Jana, Pittman, Alan, Wood, Nicholas W., Houlden, Henry
הוצא לאור ב Ann Clin Transl Neurol (2018)

An update on advances in magnetic resonance imaging of multiple system atrophy

מאת Chelban, Viorica, Bocchetta, Martina, Hassanein, Sara, Haridy, Nourelhoda A., Houlden, Henry, Rohrer, Jonathan D.
הוצא לאור ב J Neurol (2018)

Lysosomal storage disorder gene variants in multiple system atrophy

מאת Pihlstrøm, Lasse, Schottlaender, Lucia, Chelban, Viorica, Meissner, Wassilios G, Federoff, Monica, Singleton, Andy, Houlden, Henry
הוצא לאור ב Brain (2018)

An update on MSA: premotor and non-motor features open a window of opportunities for early diagnosis and intervention

מאת Chelban, Viorica, Catereniuc, Daniela, Aftene, Daniela, Gasnas, Alexandru, Vichayanrat, Ekawat, Iodice, Valeria, Groppa, Stanislav, Houlden, Henry
הוצא לאור ב J Neurol (2020)

Severe axonal neuropathy is a late manifestation of SPG11

מאת Manole, Andreea, Chelban, Viorica, Haridy, Nourelhoda A., Hamed, Sherifa A., Berardo, Andrés, Reilly, Mary M., Houlden, Henry
הוצא לאור ב J Neurol (2016)

Analysis of the prion protein gene in multiple system atrophy

מאת Chelban, Viorica, Manole, Andreea, Pihlstrøm, Lasse, Schottlaender, Lucia, Efthymiou, Stephanie, OConnor, Emer, Meissner, Wassilios G., Holton, Janice L., Houlden, Henry
הוצא לאור ב Neurobiol Aging (2017)

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia

מאת Chelban, Viorica, Tucci, Arianna, Lynch, David S, Polke, James M, Santos, Liana, Jonvik, Hallgeir, Groppa, Stanislav, Wood, Nicholas W, Houlden, Henry
הוצא לאור ב J Neurol Neurosurg Psychiatry (2017)

A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres

מאת Gang, Qiang, Bettencourt, Conceição, Holton, Janice, Lovejoy, Christopher, Chelban, Viorica, Oconnor, Emer, Yuan, Yun, Reilly, Mary M., Hanna, Michael, Houlden, Henry
הוצא לאור ב J Neurol (2020)

RFC1-related ataxia is a mimic of early multiple system atrophy

מאת Sullivan, Roisin, Yau, Wai Yan, Chelban, Viorica, Rossi, Salvatore, Dominik, Natalia, O'Connor, Emer, Hardy, John, Wood, Nicholas, Cortese, Andrea, Houlden, Henry
הוצא לאור ב J Neurol Neurosurg Psychiatry (2021)

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

מאת Bettencourt, Conceição, Salpietro, Vincenzo, Efthymiou, Stephanie, Chelban, Viorica, Hughes, Deborah, Pittman, Alan M., Federoff, Monica, Bourinaris, Thomas, Spilioti, Martha, Deretzi, Georgia, Kalantzakou, Triantafyllia, Houlden, Henry, Singleton, Andrew B., Xiromerisiou, Georgia
הוצא לאור ב Orphanet J Rare Dis (2017)

Proximity extension assay testing reveals novel diagnostic biomarkers of atypical parkinsonian syndromes

מאת Jabbari, Edwin, Woodside, John, Guo, Tong, Magdalinou, Nadia K, Chelban, Viorica, Athauda, Dilan, Lees, Andrew J, Foltynie, Thomas, Houlden, Henry, Church, Alistair, Hu, Michele TM, Rowe, James B, Zetterberg, Henrik, Morris, Huw R
הוצא לאור ב J Neurol Neurosurg Psychiatry (2019)

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

מאת Chelban, Viorica, Patel, Nisha, Vandrovcova, Jana, Zanetti, M. Natalia, Lynch, David S., Ryten, Mina, Botía, Juan A., Bello, Oscar, Tribollet, Eloise, Efthymiou, Stephanie, Davagnanam, Indran, Bashiri, Fahad A., Wood, Nicholas W., Rothman, James E., Alkuraya, Fowzan S., Houlden, Henry
הוצא לאור ב Am J Hum Genet (2017)

Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing

מאת Perez-Rodriguez, Diego, Kalyva, Maria, Leija-Salazar, Melissa, Lashley, Tammaryn, Tarabichi, Maxime, Chelban, Viorica, Gentleman, Steve, Schottlaender, Lucia, Franklin, Hannah, Vasmatzis, George, Houlden, Henry, Schapira, Anthony H. V., Warner, Thomas T., Holton, Janice L., Jaunmuktane, Zane, Proukakis, Christos
הוצא לאור ב Acta Neuropathol Commun (2019)

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

מאת O’Connor, Emer, Vandrovcova, Jana, Bugiardini, Enrico, Chelban, Viorica, Manole, Andreea, Davagnanam, Indran, Wiethoff, Sarah, Pittman, Alan, Lynch, David S, Efthymiou, Stephanie, Marino, Silvia, Manzur, Adnan Y, Roberts, Mark, Hanna, Michael G, Houlden, Henry, Matthews, Emma, Wood, Nicholas W
הוצא לאור ב J Neurol Neurosurg Psychiatry (2018)

Automated Brainstem Segmentation Detects Differential Involvement in Atypical Parkinsonian Syndromes

מאת Bocchetta, Martina, Iglesias, Juan Eugenio, Chelban, Viorica, Jabbari, Edwin, Lamb, Ruth, Russell, Lucy L., Greaves, Caroline V., Neason, Mollie, Cash, David M., Thomas, David L., Warren, Jason D., Woodside, John, Houlden, Henry, Morris, Huw R., Rohrer, Jonathan D.
הוצא לאור ב J Mov Disord (2020)

Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

מאת Chelban, Viorica, Wiethoff, Sarah, Fabian‐Jessing, Bjørn K., Haridy, Nourelhoda A., Khan, Alaa, Efthymiou, Stephanie, Becker, Esther B. E., O'Connor, Emer, Hersheson, Joshua, Newland, Katrina, Hojland, Allan Thomas, Gregersen, Pernille A., Lindquist, Suzanne G., Petersen, Michael B., Nielsen, Jørgen E., Nielsen, Michael, Wood, Nicholas W., Giunti, Paola, Houlden, Henry
הוצא לאור ב Mov Disord (2018)

Spastic paraplegia preceding PSEN1‐related familial Alzheimer's disease

מאת Chelban, Viorica, Breza, Marianthi, Szaruga, Maria, Vandrovcova, Jana, Murphy, David, Lee, Chia‐Ju, Alikhwan, Sondos, Bourinaris, Thomas, Vavougios, George, Ilyas, Muhammad, Halim, Sobia Ahsan, Al‐Harrasi, Ahmed, Kartanou, Chrisoula, Ronald, Coras, Blumcke, Ingmar, Alexoudi, Athanasia, Gatzonis, Stylianos, Stefanis, Leonidas, Karadima, Georgia, Wood, Nicholas W., Chávez‐Gutiérrez, Lucía, Hardy, John, Houlden, Henry, Koutsis, Georgios
הוצא לאור ב Alzheimers Dement (Amst) (2021)

MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism

מאת Chelban, Viorica, Carecchio, Miryam, Rea, Gillian, Bowirrat, Abdalla, Kirmani, Salman, Magistrelli, Luca, Efthymiou, Stephanie, Schottlaender, Lucia, Vandrovcova, Jana, Salpietro, Vincenzo, Salsano, Ettore, Pareyson, Davide, Chiapparini, Luisa, Jan, Farida, Ibrahim, Shahnaz, Khan, Fatima, Qarnain, Zul, Groppa, Stanislav, Bajaj, Nin, Balint, Bettina, Bhatia, Kailash P., Lees, Andrew, Morrison, Patrick J., Wood, Nicholas W., Garavaglia, Barbara, Houlden, Henry
הוצא לאור ב Neurol Genet (2020)

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

מאת Kara, Eleanna, Tucci, Arianna, Manzoni, Claudia, Lynch, David S., Elpidorou, Marilena, Bettencourt, Conceicao, Chelban, Viorica, Manole, Andreea, Hamed, Sherifa A., Haridy, Nourelhoda A., Federoff, Monica, Preza, Elisavet, Hughes, Deborah, Pittman, Alan, Jaunmuktane, Zane, Brandner, Sebastian, Xiromerisiou, Georgia, Wiethoff, Sarah, Schottlaender, Lucia, Proukakis, Christos, Morris, Huw, Warner, Tom, Bhatia, Kailash P., Korlipara, L.V. Prasad, Singleton, Andrew B., Hardy, John, Wood, Nicholas W., Lewis, Patrick A., Houlden, Henry
הוצא לאור ב Brain (2016)

Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis

מאת Vila Cuenca, Marc, Marchi, Giacomo, Barqué, Anna, Esteban-Jurado, Clara, Marchetto, Alessandro, Giorgetti, Alejandro, Chelban, Viorica, Houlden, Henry, Wood, Nicholas W, Piubelli, Chiara, Dorigatti Borges, Marina, Martins de Albuquerque, Dulcinéia, Yotsumoto Fertrin, Kleber, Jové-Buxeda, Ester, Sanchez-Delgado, Jordi, Baena-Díez, Neus, Burnyte, Birute, Utkus, Algirdas, Busti, Fabiana, Kaubrys, Gintaras, Suku, Eda, Kowalczyk, Kamil, Karaszewski, Bartosz, Porter, John B., Pollard, Sally, Eleftheriou, Perla, Bignell, Patricia, Girelli, Domenico, Sanchez, Mayka
הוצא לאור ב Int J Mol Sci (2020)