WADMAN, RENSKE I.; DE AMICIS, RAMONA; BRUSA, CHIARA; BATTEZZATI, ALBERTO; BERTOLI, SIMONA; DAVIS, TRACEY; MAIN, MARION; MANZUR, ADNAN; MASTELLA, CHIARA; MUNOT, PINKI; IMBRIGIOTTA, NADIA; SCHOTTLAENDER, LUCIA; SARKOZY, ANNA; TRUCCO, FEDERICA; BARANELLO, GIOVANNI; SCOTO, MARIACRISTINA; MUNTONI, FRANCESCO

Feeding difficulties in children and adolescents with spinal muscular atrophy type 2

NEUROMUSCULAR DISORDERS; Año: 2021 vol. 31 p. 101 - 112

SOKRATOUS, MARIA; LUCIA, SCHOTTLAENDER; BOURINARIS, THOMAS; MAROGIANNI, CHRYSOULA; ARNAOUTOGLOU, MARIANTHI; PATRIKIOU, ELENI; RALLI, STYLIANI; MARKOU, AIKATERINI; DARDIOTIS, EFTHIMIOS; HOULDEN, HENRY; HADJIGEORGIOU, GEORGIOS M.; XIROMERISIOU, GEORGIA

Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration; Año: 2020 vol. 21 p. 470 - 472

SCHOTTLAENDER, LUCIA V.; ABETI, ROSELLA; JAUNMUKTANE, ZANE; MACMILLAN, CAROL; CHELBAN, VIORICA; O'CALLAGHAN, BENJAMIN; MCKINLEY, JOHN; MAROOFIAN, REZA; EFTHYMIOU, STEPHANIE; ATHANASIOU-FRAGKOULI, ALKYONI; FORBES, RAEBURN; SOUTAR, MARC P.M.; LIVINGSTON, JOHN H.; KALMAR, BERNARDETT; SWAYNE, ORLANDO; HOTTON, GARY; GROPPA, STANISLAV; KARASHOVA, BLAGOVESTA MARINOVA; NACHBAUER, WOLFGANG; BOESCH, SYLVIA; ARNING, LARISSA; TIMMANN, DAGMAR; CORMAND, BRU; PÉREZ-DUEÑAS, BELEN; DI ROSA, GABRIELLA; GORAYA, JATINDER S.; SULTAN, TIPU; MINE, JUN; AVDJIEVA, DANIELA; KATHOM, HADIL; TINCHEVA, RADKA; BANU, SELINA; PINEDA-MARFA, MERCEDES; VEGGIOTTI, PIERANGELO; FERRARI, MICHEL D.; VERROTTI, ALBERTO; MARSEGLIA, GIANGLUIGI; SAVASTA, SALVATORE; GARCÍA-SILVA, MAYTE; RUIZ, ALFONS MACAYA; GARAVAGLIA, BARBARA; BORGIONE, EUGENIA; PORTARO, SIMONA; SANCHEZ, BENIGNO MONTEAGUDO; BOLES, RICHARD; PAPACOSTAS, SAVVAS; VIKELIS, MICHAIL; PAPANICOLAOU, ELENI ZAMBA; DARDIOTIS, EFTHYMIOS; MAQBOOL, SHAZIA; IBRAHIM, SHAHNAZ; KIRMANI, SALMAN; RANA, NUZHA

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

AMERICAN JOURNAL OF HUMAN GENETICS; Año: 2020 vol. 106 p. 412 - 421

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

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

Acta Neuropathologica Communications; Año: 2019 vol. 7

PIHLSTRØM, LASSE; SCHOTTLAENDER, LUCIA; CHELBAN, VIORICA; HOULDEN, HENRY

LRP10 in α-synucleinopathies

LANCET NEUROLOGY; Año: 2018 vol. 17 p. 1033 - 1034

CHELBAN, VIORICA; VICHAYANRAT, EKAWAT; SCHOTTLAENDE, LUCIA; IODICE, VALERIA; HOULDEN, HENRY

Autonomic dysfunction in genetic forms of synucleinopathies

MOVEMENT DISORDERS; Año: 2018 vol. 33 p. 359 - 371

PIHLSTRØM, LASSE; SCHOTTLAENDER, LUCIA; CHELBAN, VIORICA; MEISSNER, WASSILIOS G; FEDEROFF, MONICA; SINGLETON, ANDY; HOULDEN, HENRY

Lysosomal storage disorder gene variants in multiple system atrophy

BRAIN; Año: 2018

FINKEL, RICHARD S.; MERCURI, EUGENIO; DARRAS, BASIL T.; CONNOLLY, ANNE M.; KUNTZ, NANCY L.; KIRSCHNER, JANBERND; CHIRIBOGA, CLAUDIA A.; SAITO, KAYOKO; SERVAIS, LAURENT; TIZZANO, EDUARDO; TOPALOGLU, HALUK; TULINIUS, MÁR; MONTES, JACQUELINE; GLANZMAN, ALLAN M.; BISHOP, KATHIE; ZHONG, Z. JOHN; GHEUENS, SARAH; BENNETT, C. FRANK; SCHNEIDER, EUGENE; FARWELL, WILDON; DE VIVO, DARRYL C.; MUNTONI, F.; D'ARGENZIO, L.; MANZUR, A.; PISCO DOMINGOS, J.; RAMSEY, D.; RICOTTI, V.; SCHOTTLAENDER, L.; SCOTO, M.; SCUPLAK, S.M.; SELBY, V.; STRAUB, V.

Nusinersen versus sham control in infantile-onset spinal muscular atrophy

NEW ENGLAND JOURNAL OF MEDICINE; Año: 2017 vol. 377 p. 1723 - 1732

SELIKHOVA, M.; FEDOTOVA, E.; WIETHOFF, S.; SCHOTTLAENDER, L.V.; KLYUSHNIKOV, S.; ILLARIOSHKIN, S.N.; HOULDEN, H.

A 30-year history of MPAN case from Russia

CLINICAL NEUROLOGY AND NEUROSURGERY; Año: 2017 vol. 159 p. 111 - 113

BATLA, AMIT; TAI, XIN YOU; SCHOTTLAENDER, LUCIA; ERRO, ROBERT; BALINT, BETTINA; BHATIA, KAILASH P.

Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes

PARKINSONISM & RELATED DISORDERS; Año: 2017 vol. 37 p. 1 - 10

CHELBAN, VIORICA; MANOLE, ANDREEA; PIHLSTRØM, LASSE; SCHOTTLAENDER, LUCIA; EFTHYMIOU, STEPHANIE; OCONNOR, EMER; MEISSNER, WASSILIOS G.; HOLTON, JANICE L.; HOULDEN, HENRY

Analysis of the prion protein gene in multiple system atrophy

NEUROBIOLOGY OF AGING; Año: 2017 vol. 49

SCHOTTLAENDER, LUCIA V.; BETTENCOURT, CONCEIÇÃO; KIELY, AOIFE P.; CHALASANI, ANNAPURNA; NEERGHEEN, VIRUNA; HOLTON, JANICE L.; HARGREAVES, IAIN; HOULDEN, HENRY

Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients

PLOS ONE; Año: 2016 vol. 11

SAILER, ANNA; SCHOLZ, SONJA W.; NALLS, MICHAEL A.; SCHULTE, CLAUDIA; FEDEROFF, MONICA; PRICE, T. RYAN; LEES, ANDREW; ROSS, OWEN A.; DICKSON, DENNIS W.; MOK, KIN; MENCACCI, NICCOLO E.; SCHOTTLAENDER, LUCIA; CHELBAN, VIORICA; LING, HELEN; O'SULLIVAN, SEAN S.; WOOD, NICHOLAS W.; TRAYNOR, BRYAN J.; FERRUCCI, LUIGI; FEDEROFF, HOWARD J.; MHYRE, TIMOTHY R.; MORRIS, HUW R.; DEUSCHL, GÜNTHER; QUINN, NIALL; WIDNER, HAKAN; ALBANESE, ALBERTO; INFANTE, JON; BHATIA, KAILASH P.; POEWE, WERNER; OERTEL, WOLFGANG; HÖGLINGER, GÜNTER U.; WÜLLNER, ULLRICH; GOLDWURM, STEFANO; PELLECCHIA, MARIA TERESA; FERREIRA, JOAQUIM; TOLOSA, EDUARDO; BLOEM, BASTIAAN R.; RASCOL, OLIVIER; MEISSNER, WASSILIOS G.; HARDY, JOHN A.; REVESZ, TAMAS; HOLTON, JANICE L.; GASSER, THOMAS; WENNING, GREGOR K.; SINGLETON, ANDREW B.; HOULDEN, HENRY

A genome-wide association study in multiple system atrophy

NEUROLOGY; Año: 2016 vol. 87 p. 1591 - 1598

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

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

BRAIN; Año: 2016 vol. 139 p. 1904 - 1918

FEDEROFF, MONICA; SCHOTTLAENDER, LUCIA V.; HOULDEN, HENRY; SINGLETON, ANDREW

Multiple system atrophy: the application of genetics in understanding etiology

CLINICAL AUTONOMIC RESEARCH; Año: 2015 vol. 25 p. 19 - 36

GAMI, PRIYA; MURRAY, CHRISTINA; SCHOTTLAENDER, LUCIA; BETTENCOURT, CONCEIÇÃO; DE PABLO FERNANDEZ, EDUARDO; MUDANOHWO, ESE; MIZIELINSKA, SARAH; POLKE, JAMES M.; HOLTON, JANICE L.; ISAACS, ADRIAN M.; HOULDEN, HENRY; REVESZ, TAMAS; LASHLEY, TAMMARYN

A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease

ACTA NEUROPATHOLOGICA; Año: 2015 vol. 130 p. 599 - 601

SCHOTTLAENDER, LUCIA V.; PETZOLD, AXEL; WOOD, NICHOLAS; HOULDEN, HENRY

Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy

JOURNAL OF THE NEUROLOGICAL SCIENCES; Año: 2015 vol. 348 p. 266 - 268

SCHOTTLAENDER, LUCIA V.; POLKE, JAMES M.; LING, HELEN; MACDOANLD, NICOLA D.; TUCCI, ARIANNA; NANJI, TINA; PITTMAN, ALAN; DE SILVA, ROHAN; HOLTON, JANICE L.; REVESZ, TAMAS; SWEENEY, MARY G.; SINGLETON, ANDY B.; LEES, ANDREW J.; BHATIA, KAILASH P.; HOULDEN, HENRY

The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism

NEUROBIOLOGY OF AGING; Año: 2015 vol. 36

HECKMAN, M. G.; SCHOTTLAENDER, L.; SOTO-ORTOLAZA, A. I.; DIEHL, N. N.; RAYAPROLU, S.; OGAKI, K.; FUJIOKA, S.; MURRAY, M. E.; CHESHIRE, W. P.; UITTI, R. J.; WSZOLEK, Z. K.; FARRER, M. J.; SAILER, A.; SINGLETON, A. B.; CHINNERY, P. F.; KEOGH, M. J.; GENTLEMAN, S. M.; HOLTON, J. L.; AOIFE, K.; MANN, D. M. A.; AL-SARRAJ, S.; TROAKES, C.; DICKSON, D. W.; HOULDEN, H.; ROSS, O. A.

LRRK2 exonic variants and risk of multiple system atrophy

NEUROLOGY; Año: 2014 vol. 83 p. 2256 - 2261

SCHOTTLAENDER, LUCIA V.; HOLTON, JANICE L.; HOULDEN, HENRY

Multiple System Atrophy and Repeat Expansions in C9orf72

JAMA Neurology; Año: 2014 vol. 71

SCHOTTLAENDER, LUCIA V.; HOULDEN, HENRY

Mutant COQ2 in Multiple-System Atrophy

NEW ENGLAND JOURNAL OF MEDICINE; Año: 2014 vol. 371 p. 80 - 83

BERARDO, ANDRÉS; SCHOTTLAENDER, LUCÍA; LEIGUARDA, RAMÓN; HOULDEN, HENRY; REISIN, RICARDO

Nueva mutación en SPG11 en una paciente con paraplejía espástica hereditaria complicada: hallazgos clínicos-electrofisiológicos y moleculares

Neurología Argentina; Año: 2014 vol. 6 p. 155 - 159

SCHOTTLAENDER, LUCIA V.; CORREALE, JORGE; AMERISO, SEBASTIAN F.; MOSCHINI, JAVIER A.; CRIVELLI, LUCIA; MELI, FRANCISCO; FIOL, MARCELA P.

White matter relapsing remitting disease: “Susac’s syndrome”—An underdiagnosed entity

Multiple Sclerosis and Related Disorders; Año: 2013 vol. 2 p. 349 - 354

HAMMER, MONIA B.; ELEUCH-FAYACHE, GHADA; SCHOTTLAENDER, LUCIA V.; NEHDI, HOUDA; GIBBS, J. RAPHAEL; AREPALLI, SAMPATH K.; CHONG, SEAN B.; HERNANDEZ, DENA G.; SAILER, ANNA; LIU, GUOXIANG; MISTRY, PRAMOD K.; CAI, HUAIBIN; SHRADER, GINAMARIE; SASSI, CELESTE; BOUHLAL, YOSR; HOULDEN, HENRY; HENTATI, FAYÇAL; AMOURI, RIM; SINGLETON, ANDREW B.

Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

AMERICAN JOURNAL OF HUMAN GENETICS; Lugar: United States; Año: 2013 vol. 92 p. 245 - 251

MOK, KIN Y.; KOUTSIS, GEORGIOS; SCHOTTLAENDER, LUCIA V.; POLKE, JAMES; PANAS, MARIOS; HOULDEN, HENRY

High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients

NEUROBIOLOGY OF AGING; Lugar: Amsterdam; Año: 2012 vol. 33

FUGATE, J. E.; AMERISO, S. F.; ORTIZ, G.; SCHOTTLAENDER, L. V.; WIJDICKS, E. F. M.; FLEMMING, K. D.; RABINSTEIN, A. A.

Variable Presentations of Postpartum Angiopathy

STROKE; Año: 2012 vol. 43 p. 670 - 676

FAWCETT, KATHERINE; MEHRABIAN, MOHADESEH; LIU, YO-TSEN; HAMED, SHERIFA; ELAHI, ELAHE; REVESZ, TAMAS; KOUTSIS, GEORGIOS; HERSCHESON, JOSHUA; SCHOTTLAENDER, LUCIA; WARDLE, MARK; MORRISON, PATRICK J.; MORRIS, HUW R.; GIUNTI, PAOLA; WOOD, NICHOLAS; HOULDEN, HENRY

The frequency of spinocerebellar ataxia type 23 in a UK population

JOURNAL OF NEUROLOGY; Año: 2012 vol. 260 p. 856 - 859