Phosphoserine < Phosphotransferases (Alcohol Group Acceptor) < Photic Stimulation

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 25.
[0-20] [0 - 20][0 - 25][20-24][20-40]

Ident.	Authors (with country if any)	Title
000228 (2000)	B M Ross [Canada] ; K. Eder ; A. Moszczynska ; N. Mamalias ; J. Lamarche ; L. Ang ; M. Pandolfo ; G. Rouleau ; M. Kirchgessner ; S J Kish	Abnormal activity of membrane phospholipid synthetic enzymes in the brain of patients with Friedreich's ataxia and spinocerebellar atrophy type-1.
000577 (2001)	M. Pandolfo [Canada]	Molecular basis of Friedreich ataxia.
000628 (2001)	D O Mcdaniel [États-Unis] ; B. Keats ; V V Vedanarayanan ; S H Subramony	Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia.
000804 (2002)	Danqing Zhu [Australie] ; Christopher Burke ; Anthony Leslie ; Garth A. Nicholson	Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion.
000C35 (2003)	José L. Molinuevo [Espagne] ; María J. Martí ; Rafael Blesa ; Eduardo Tolosa	Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome.
000C85 (2004)	Madhavi Thomas [États-Unis] ; Susan J. Hayflick ; Joseph Jankovic [États-Unis]	Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration.
001005 (2005)	Cecilia Marelli [Italie] ; Sylvie Piacentini ; Barbara Garavaglia ; Floriano Girotti ; Alberto Albanese	Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration.
001186 (2005)	Yu-Hu Zhang [République populaire de Chine] ; Bei-Sha Tang [République populaire de Chine] ; Ai-Ling Zhao [République populaire de Chine] ; Kun Xia [République populaire de Chine] ; Zhi-Gao Long [République populaire de Chine] ; Ji-Feng Guo [République populaire de Chine] ; Shawn K. Westaway [États-Unis] ; Susan J. Hayflick [États-Unis]	Novel Compound Heterozygous Mutations in the PANK2 Gene in a Chinese Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration
001427 (2006)	Paola Valentino [Italie] ; Grazia Annesi ; Innocenza C. Cir Candiano ; Ferdinanda Annesi ; Donatella Civitelli ; Patrizia Tarantino ; Francesco Naso ; Patrizia Spadafora ; Sara Carrideo ; Elvira V. De Marco ; Domenico Consoli ; Mario Zappia ; Antonio Gambardella ; Aldo Quattrone	Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.
001531 (2006)	Angelo Antonini [Italie] ; Stefano Goldwurm ; Riccardo Benti ; Holger Prokisch ; Monika Ebhardt ; Roberto Cilia ; Michela Zini ; Andrea Righini ; Giovanni Cossu ; Gianni Pezzoli	Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration.
001557 (2006)	Tsao-Wei Liang [États-Unis] ; Adam C. Truax ; John Q. Trojanowski ; Virginia M-Y Lee ; Matthew B. Stern ; Paul T. Kotzbauer	Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation.
001918 (2006)	Martin Krause [Allemagne] ; Wolfgang Fogel ; Volker Tronnier ; Sabine Pohle ; Konstanze Hörtnagel ; Ute Thyen ; Jens Volkmann	Long-term benefit to pallidal deep brain stimulation in a case of dystonia secondary to pantothenate kinase-associated neurodegeneration.
001F67 (2008)	Sun J. Chung ; Jae-Hong Lee ; Myoung C. Lee ; Han-Wook Yoo ; Gu-Hwan Kim	Focal hand dystonia in a patient with PANK2 mutation.
002566 (2009)	Yih-Ru Wu ; Chiung-Mei Chen ; Chih-Ying Chao ; Ron-Kuo Lyu ; Guey-Jen Lee-Chen	Pantothenate kinase-associated neurodegeneration in two Taiwanese siblings: identification of a novel PANK2 gene mutation.
002927 (2010)	Won Tae Yoon ; Won Yong Lee ; Hee-Young Shin ; Seung-Tae Lee ; Chang-Seok Ki	Novel PANK2 gene mutations in korean patient with pantothenate kinase-associated neurodegeneration presenting unilateral dystonic tremor.
002C82 (2010)	Annu Aggarwal [Inde] ; Susanne A. Schneider ; Henry Houlden ; Monty Silverdale ; Reema Paudel ; Coro Paisan-Ruiz ; Shrinivas Desai ; Mihir Munshi ; Darshana Sanghvi ; John Hardy ; Kailash P. Bhatia ; Mohit Bhatt	Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms.
002E00 (2010)	Emilia Gatto ; Jose L. Etcheverry ; Daniela P. Converso ; Carla Bidinost ; Alberto Rosa	Pantothenate kinase-associated neurodegeneration: novel mutations in the PANK2 gene in an Argentinean young woman.
002E90 (2010)	Maja Kojovic ; Mikko Kuoppam Ki ; Niall Quinn ; Kailash P. Bhatia	"Progressive delayed-onset postanoxic dystonia" diagnosed with PANK2 mutations 26 years after onset-an update.
003050 (2011)	Francisco Grandas ; Carlos Fernandez-Carballal ; Juan Guzman-De-Villoria ; Israel Ampuero	Treatment of a dystonic storm with pallidal stimulation in a patient with PANK2 mutation.
003065 (2011)	Salima Assami ; Hamid Azzedine ; Sonia Nouioua ; Emeline Mundwiller ; Soulaiman Mahoui ; Samira Makri ; Meriam Djemai ; Djamel Grid ; Alexis Brice ; Tarik Hamadouche ; Giovanni Stevanin ; Meriem Tazir	Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations.
003217 (2011)	Giovanna Zorzi [Italie] ; Federica Zibordi ; Luisa Chiapparini ; Enrico Bertini ; Lidia Russo ; Antonio Piga ; Filomena Longo ; Barbara Garavaglia ; Domenico Aquino ; Mario Savoiardo ; Alessandra Solari ; Nardo Nardocci	Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: results of a phase II pilot trial.

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