Ident. | Authors (with country if any) | Title |
---|
000575 (2014) |
Jon Stone [Royaume-Uni] ; Roberto Erro | Functional (psychogenic) painful legs moving toes syndrome. |
000B22 (2013) |
Victor S. C. Fung [Australie] ; H. A. Jinnah [États-Unis] ; Kailash Bhatia [Royaume-Uni] ; Marie Vidailhet [France] | ASSESSMENT OF THE PATIENT WITH ISOLATED OR COMBINED DYSTONIA: AN UPDATE ON DYSTONIA SYNDROMES |
000E76 (2012) |
Ignacio Rubio-Agusti [Royaume-Uni] ; Maja Kojovic ; Mark J. Edwards ; Elaine Murphy ; Hoskote S. Chandrashekar ; Robin H. Lachmann ; Kailash P. Bhatia | Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review. |
000F10 (2012) |
Rita Horvath [Royaume-Uni] ; Elke Holinski-Feder ; Vivienne C M. Neeve ; Angela Pyle ; Helen Griffin ; Deephthi Ashok ; Charlotte Foley ; Gavin Hudson ; Bernd Rautenstrauss ; Gudrun Nürnberg ; Peter Nürnberg ; Jörg Kortler ; Birgit Neitzel ; Ingelore B Ssmann ; Thahira Rahman ; Bernard Keavney ; John Loughlin ; Sophie Hambleton ; Benedikt Schoser ; Hanns Lochmüller ; Mauro Santibanez-Koref ; Patrick F. Chinnery | A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. |
000F13 (2012) |
Stella Gagliardi ; Annalisa Davin ; Ivana Ricca ; Gaetano S. Grieco ; Roberta Zangaglia ; Francesco Pierelli ; Andrea Ghiroldi ; Claudio Pacchetti ; Carlo Casali ; Cristina Cereda | A new GLUT-1 mutation in a family with glucose transporter 1 deficiency syndrome. |
001444 (2011) |
Valerio Pisani [Italie] ; Paolo Stanzione [Italie] ; Alessandro Meschini [Italie] ; Simone Marziali [Italie] ; Francesco Giuseppe Garaci [Italie] ; Francesco Brancati [Italie] ; Alessandra Nicoletti [Italie] ; Mario Zappia [Italie] ; Antonio Pisani [Italie] | Putaminal, but not nigral alterations, characterize hemiparkinsonism‐hemiatrophy syndrome: A case report |
001813 (2011) |
Martina Wolf [Allemagne] ; Andreas Bruehschwein [Allemagne] ; Carola Sauter-Louis [Allemagne] ; Adrian C. Sewell [Allemagne] ; Andrea Fischer [Allemagne] | An inherited episodic head tremor syndrome in Doberman pinscher dogs |
001A84 (2010) |
Jonathan D. Rohrer [Royaume-Uni] ; Dominic Paviour [Royaume-Uni] ; Adolfo M. Bronstein [Royaume-Uni] ; Sean S. O'Sullivan [Royaume-Uni] ; Andrew Lees (neurologue) [Royaume-Uni] ; Jason D. Warren [Royaume-Uni] | Progressive supranuclear palsy syndrome presenting as progressive nonfluent aphasia: A neuropsychological and neuroimaging analysis |
001C61 (2010) |
Irene Litvan [États-Unis] ; Amanda Chism [États-Unis] ; Juan Litvan [États-Unis] ; Alex Cambon [États-Unis] ; Michael Hutton [États-Unis] | H1/H1 genotype influences symptom severity in corticobasal syndrome |
001D28 (2010) |
Silvia Gil-Navarro [Espagne] ; Francisco Grandas [Espagne] | Dyskinesia–hyperpyrexia syndrome: Another Parkinson's disease emergency |
002145 (2009) |
Mindhu M. Wickremaratchi [Royaume-Uni] ; Elisa Majounie [Royaume-Uni] ; Huw R. Morris [Royaume-Uni] ; Nigel M. Williams [Royaume-Uni] ; Helen Lewis [Royaume-Uni] ; Steven S. Gill [Royaume-Uni] ; Sadaquate Khan [Royaume-Uni] ; Peter Heywood [Royaume-Uni] ; John Hardy [États-Unis, Royaume-Uni] ; Charles M. Wiles [Royaume-Uni] ; Andrew B. Singleton [États-Unis] ; Niall P. Quinn [Royaume-Uni] | Parkin‐related disease clinically diagnosed as a pallido‐pyramidal syndrome |
002229 (2009) |
Jaume Rosset-Llobet [Espagne] ; Marc Garcia-Elias [Espagne] ; Jordi Montero [Espagne] ; Josep Valls-Solé [Espagne] ; Álvaro Pascual-Leone [États-Unis, Espagne] | Linburg's syndrome, can it cause focal dystonia? |
002243 (2009) |
Bhaskara P. Shelley [Royaume-Uni] ; John R. Hodges [Royaume-Uni, Australie] ; Christopher M. Kipps [Royaume-Uni] ; John H. Xuereb [Royaume-Uni] ; Thomas H. Bak [Royaume-Uni] | Is the pathology of corticobasal syndrome predictable in life? |
002720 (2008) |
Joong-Seok Kim [Corée du Sud] ; Jae-Young An [Corée du Sud] ; Kwang-Soo Lee [Corée du Sud] ; Yong-An Chung [Corée du Sud] ; Jin-Soo Choi [Corée du Sud] ; Kwon-Haeng Lee [Corée du Sud] | PET evidence of cerebellar hypometabolism in a patient with familial episodic ataxia‐myokymia syndrome |
002741 (2008) |
Nardo Nardocci [Italie] ; Giovanna Zorzi [Italie] ; Chiara Barzaghi [Italie] ; Federica Zibordi [Italie] ; Claudia Ciano [Italie] ; Daniele Ghezzi [Italie] ; Barbara Garavaglia [Italie] | Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families |
002806 (2008) |
Edward J. Wild [Royaume-Uni] ; Ese E. Mudanohwo [Royaume-Uni] ; Mary G. Sweeney [Royaume-Uni] ; Susanne A. Schneider [Royaume-Uni] ; Jon Beck [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Martin N. Rossor [Royaume-Uni] ; Mary B. Davis [Royaume-Uni] ; Sarah J. Tabrizi [Royaume-Uni] | Huntington's disease phenocopies are clinically and genetically heterogeneous |
002890 (2008) |
Susanne A. Schneider [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] | Dystonia in the Woodhouse Sakati syndrome: A new family and literature review |
002921 (2008) |
Laura Avanzino [Royaume-Uni, Italie] ; Davide Martino [Royaume-Uni, Italie] ; Bart P. C. Van De Warrenburg [Royaume-Uni, Pays-Bas] ; Susanne A. Schneider [Royaume-Uni] ; Giovanni Abbruzzese [Italie] ; Giovanni Defazio [Italie] ; Anette Schrag [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; John C. Rothwell [Royaume-Uni] | Cortical excitability is abnormal in patients with the “fixed dystonia” syndrome |
002C73 (2007) |
Ruth H. Walker [États-Unis] ; Hans H. Jung [Suisse] ; François Tison [France] ; Soohee Lee [États-Unis] ; Adrian Danek [Allemagne] | Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome |
002D40 (2007) |
Ji-Ho Lin [Taïwan] ; Shang-Yeong Kwan [Taïwan] ; Dean Wu [Taïwan] | Mixed alien hand syndrome coexisting with left‐sided extinction secondary to a left corpus callosal lesion: A case report |
002D83 (2007) |
Steven A. Gunzler [États-Unis] ; A. Jon Stoessl [Canada] ; Robert A. Egan [États-Unis] ; Richard G. Weleber [États-Unis] ; Paul Wang [États-Unis] ; John G. Nutt [États-Unis] | Joubert syndrome surviving to adulthood associated with a progressive movement disorder |