1. A homozygous loss‐of‐function mutation in PDE2A associated to early‐onset hereditary chorea. Issue 3 (2nd February 2018) Authors: Salpietro, Vincenzo; Perez‐Dueñas, Belen; Nakashima, Kosuke; San Antonio‐Arce, Victoria; Manole, Andreea; Efthymiou, Stephanie; Vandrovcova, Jana; Bettencourt, Conceicao; Mencacci, Niccolò E.; Klein, Christine; Kelly, Michy P.; Davies, Ceri H.; Kimura, Haruhide; Macaya, Alfons; Houlden, Henry Journal: Movement disorders Issue: Volume 33:Issue 3(2018) Page Start: 482 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A loss‐of‐function homozygous mutation in DDX59 implicates a conserved DEAD‐box RNA helicase in nervous system development and function. Issue 2 (27th November 2017) Authors: Salpietro, Vincenzo; Efthymiou, Stephanie; Manole, Andreea; Maurya, Bhawana; Wiethoff, Sarah; Ashokkumar, Balasubramaniem; Cutrupi, Maria Concetta; Dipasquale, Valeria; Manti, Sara; Botia, Juan A.; Ryten, Mina; Vandrovcova, Jana; Bello, Oscar D.; Bettencourt, Conceicao; Mankad, Kshitij; Mukherjee... Journal: Human mutation Issue: Volume 39:Issue 2(2018) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease. (June 2017) Authors: Bugiardini, Enrico; Poole, Olivia V.; Manole, Andreea; Pittman, Alan M.; Horga, Alejandro; Hargreaves, Iain; Woodward, Cathy E.; Sweeney, Mary G.; Holton, Janice L.; Taanman, Jan-Willem; Plant, Gordon T.; Poulton, Joanna; Zeviani, Massimo; Ghezzi, Daniele; Taylor, John; Smith, Conrad; Fratter, Ca... Journal: Neurology Issue: Volume 3:Number 3(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo KCNA2 mutations cause hereditary spastic paraplegia. Issue 2 (23rd February 2017) Authors: Manole, Andreea; Männikkö, Roope; Hanna, Michael G.; Kullmann, Dimitri M.; Houlden, Henry Journal: Annals of neurology Issue: Volume 81:Issue 2(2017) Page Start: 326 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. (23rd May 2016) Authors: 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; Xi... Journal: Brain Issue: Volume 139:Part 7(2016:Jul.) Page Start: 1904 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. HLA-DRB1*1501 influences long-term disability progression and tissue damage on MRI in relapse-onset multiple sclerosis. (March 2023) Authors: Brownlee, Wallace J; Tur, Carmen; Manole, Andreea; Eshaghi, Arman; Prados, Ferran; Miszkiel, Katherine A; Wheeler-Kingshott, Claudia AM Gandini; Houlden, Henry; Ciccarelli, Olga Journal: Multiple sclerosis Issue: Volume 29:Number 3(2023) Page Start: 333 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. Issue 4 (29th March 2017) Authors: Salpietro, Vincenzo; Lin, Weichun; Vedove, Andrea Delle; Storbeck, Markus; Liu, Yun; Efthymiou, Stephanie; Manole, Andreea; Wiethoff, Sarah; Ye, Qiaohong; Saggar, Anand; McElreavey, Kenneth; Krishnakumar, Shyam S.; Pitt, Matthew; Bello, Oscar D.; Rothman, James E.; Basel‐Vanagaite, Lina; Hubshman... Journal: Annals of neurology Issue: Volume 81:Issue 4(2017) Page Start: 597 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. LETM1 couples mitochondrial DNA metabolism and nutrient preference. Issue 9 (16th July 2018) Authors: Durigon, Romina; Mitchell, Alice L; Jones, Aleck WE; Manole, Andreea; Mennuni, Mara; Hirst, Elizabeth MA; Houlden, Henry; Maragni, Giuseppe; Lattante, Serena; Doronzio, Paolo Niccolo'; Dalla Rosa, Ilaria; Zollino, Marcella; Holt, Ian J; Spinazzola, Antonella Journal: EMBO molecular medicine Issue: Volume 10:Issue 9(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy. Issue 11 (22nd February 2018) Authors: 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 Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 89:Issue 11(2018) Page Start: 1230 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Next-generation sequencing in neuromuscular diseases. Issue 5 (October 2016) Authors: Efthymiou, Stephanie; Manole, Andreea; Houlden, Henry Journal: Current opinion in neurology Issue: Volume 29:Issue 5(2016:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗