Inefficiency < Infant < Infant, Newborn

Facettes :

List of bibliographic references indexed by Infant

Number of relevant bibliographic references: 70.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000421 (2014)	Claudia Dufke [Allemagne] ; Marc Sturm ; Christopher Schroeder ; Susanne Moll ; Thomas Ott ; Olaf Riess ; Peter Bauer ; Kathrin Grundmann	Screening of mutations in GNAL in sporadic dystonia patients.
000504 (2014)	Yael Hacohen [Royaume-Uni] ; Kumaran Deiva ; Phillipa Pettingill ; Patrick Waters ; Ata Siddiqui ; Pascale Chretien ; Esse Menson ; Jean-Pierre Lin ; Marc Tardieu ; Angela Vincent ; Ming J. Lim	N-methyl-D-aspartate receptor antibodies in post-herpes simplex virus encephalitis neurological relapse.
000512 (2014)	Shekeeb S. Mohammad [Australie] ; Victor S C. Fung ; Padraic Grattan-Smith ; Deepak Gill ; Sekhar Pillai ; Sudarshini Ramanathan ; Fabienne Brilot ; Russell C. Dale	Movement disorders in children with anti-NMDAR encephalitis and other autoimmune encephalopathies.
000560 (2014)	Rachel Saunders-Pullman [États-Unis] ; Tania Fuchs [États-Unis] ; Marta San Luciano [États-Unis] ; Deborah Raymond [États-Unis] ; Alison Brashear [États-Unis] ; Robert Ortega [États-Unis] ; Andres Deik [États-Unis] ; Laurie J. Ozelius [États-Unis] ; Susan B. Bressman [États-Unis]	Heterogeneity in primary dystonia: lessons from THAP1, GNAL and TOR1A in Amish-Mennonites
000561 (2014)	Shekeeb S. Mohammad [Australie] ; Kate Sinclair ; Sekhar Pillai ; Vera Merheb ; Tim D. Aumann ; Deepak Gill ; Russell C. Dale ; Fabienne Brilot	Herpes simplex encephalitis relapse with chorea is associated with autoantibodies to N-Methyl-D-aspartate receptor or dopamine-2 receptor.
000609 (2014)	Valerija Dobri I [Allemagne] ; Nikola Kresojevi ; Ana Westenberger ; Marina Svetel ; Aleksandra Tomi ; Vesna Rali ; Igor Petrovi ; Milica Je Menica Luki ; Katja Lohmann ; Ivana Novakovi ; Christine Klein ; Vladimir S. Kosti	De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.
000846 (2013)	Hannah M. Tully [États-Unis] ; Jennifer C. Dempsey ; Gisele E. Ishak ; Margaret P. Adam ; Jonathan W. Mink ; William B. Dobyns ; Sidney M. Gospe ; Avery Weiss ; James O. Phillips ; Dan Doherty	Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis.
000898 (2013)	Yi-Chun Chen [Taïwan] ; Yun-Shien Lee ; Chen-Chang Shih ; Tony Wu ; Chiung-Mei Chen	Mutations of proline-rich transmembrane protein-2 and paroxysmal kinesigenic dyskinesia in Taiwan.
000933 (2013)	Roser Pons [Grèce] ; Dimitris Syrengelas ; Sotiris Youroukos ; Irene Orfanou ; Arqirios Dinopoulos ; Bru Cormand ; Aida Ormazabal ; Angels Garzía-Cazorla ; Mercedes Serrano ; Rafael Artuch	Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency.
000B76 (2012)	Ainhi D. Ha [Australie] ; Kaitlyn L. Parratt ; Nanna D. Rendtorff ; Marianne Lodahl ; Karl Ng ; Dominic B. Rowe ; Carolyn M. Sue ; Michael W. Hayes ; Lisbeth Tranebjaerg ; Victor S C. Fung	The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
001714 (2011)	Aida Ormazabal [Espagne] ; Mercedes Serrano [Espagne] ; Angels Garcia-Cazorla [Espagne] ; Jaume Campistol [Espagne] ; Rafael Artuch [Espagne] ; Pedro Castro De Castro [Espagne] ; Estíbaliz Barredo-Valderrama [Espagne] ; Judith Armstrong [Espagne] ; Claudio Toma [Espagne] ; Bru Cormand [Espagne]	Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype
001752 (2011)	Thomas Opladen [Allemagne] ; Georg Hoffmann [Allemagne] ; Friederike Hörster [Allemagne] ; Anne-B Rbel Hinz [Allemagne] ; Katharina Neidhardt [Allemagne] ; Christine Klein [Allemagne] ; Nicole Wolf [Pays-Bas]	Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia
001947 (2010)	Roser Pons [Grèce] ; Abbie Collins [États-Unis] ; Michael Rotstein [États-Unis] ; Kristin Engelstad [États-Unis] ; Darryl C. De Vivo [États-Unis]	The spectrum of movement disorders in Glut‐1 deficiency
001A11 (2010)	Gurusidheshwar M. Wali [Inde] ; Beat Thony [Suisse] ; Nenad Blau [Suisse]	Sepiapterin reductase deficiency: Two Indian siblings with unusual clinical features
001B34 (2010)	Julia Schicks [Allemagne] ; Matthis Synofzik [Allemagne] ; Claudia Schulte [Allemagne] ; Ludger Schöls [Allemagne]	POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe
001B71 (2010)	Jong Sam Baik [Corée du Sud] ; Myung Sik Lee [Corée du Sud]	Movement disorders associated with moyamoya disease: A report of 4 new cases and a review of literatures
001C29 (2010)	Jan Linder [Suède] ; Hans Stenlund [Suède] ; Lars Forsgren [Suède]	Incidence of Parkinson's disease and parkinsonism in northern Sweden: A population‐based study
001C73 (2010)	Xin Liu [République populaire de Chine] ; Shu-Shan Zhang [République populaire de Chine] ; Deng-Fu Fang [République populaire de Chine] ; Ming-Yi Ma [République populaire de Chine] ; Xiao-Yan Guo [République populaire de Chine] ; Yuan Yang [République populaire de Chine] ; Hui-Fang Shang [République populaire de Chine]	GCH1 mutation and clinical study of Chinese patients with dopa‐responsive dystonia
001D17 (2010)	Hiroshi Sakuma [Japon] ; Yuko Shimizu [Japon] ; Yoshiaki Saito [Japon] ; Kenji Sugai [Japon] ; Masumi Inagaki [Japon] ; Makiko Kaga [Japon] ; Masayuki Sasaki [Japon]	Electrophysiological evidence of cerebral dysfunction in childhood opsoclonus‐myoclonus syndrome
001D52 (2010)	Cecilia Bonnet [France] ; Agathe Roubertie [France] ; Diane Doummar [France] ; Nadia Bahi-Buisson [France] ; Valérie Cochen De Cock [France] ; Emmanuel Roze [France]	Developmental and benign movement disorders in childhood
001E40 (2010)	Michael R. Pranzatelli ; Elizabeth D. Tate ; Jennifer A. Swan ; Anna L. Travelstead ; Jerry A. Colliver [États-Unis] ; Steven J. Verhulst [États-Unis] ; Carl J. Crosley [États-Unis] ; William D. Graf [États-Unis] ; Suja A. Joseph [États-Unis] ; Howard M. Kelfer [États-Unis] ; G. Praveen Raju [États-Unis]	B cell depletion therapy for new‐onset opsoclonus‐myoclonus

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