Pantothenate Kinase-Associated Neurodegeneration (drug therapy) < Pantothenate Kinase-Associated Neurodegeneration (genetics) < Pantothenate Kinase-Associated Neurodegeneration (history)

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List of bibliographic references indexed by Pantothenate Kinase-Associated Neurodegeneration (genetics)

Number of relevant bibliographic references: 12.

Ident.	Authors (with country if any)	Title
000910 (2013)	Eva C. Schulte [Allemagne] ; Malte C. Claussen ; Angela Jochim ; Tobias Haack ; Monika Hartig ; Maja Hempel ; Holger Prokisch ; Ursula Haun-Jünger ; Juliane Winkelmann ; Bernhard Hemmer ; Annette Förschler ; Rüdiger Ilg	Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.
000A66 (2013)	Jennifer G. Goldman [États-Unis] ; Sheila R. Eichenseer ; Elizabeth Berry-Kravis ; Simon Zimnowodzki ; Allison Gregory ; Penelope Hogarth ; Susan J. Hayflick	Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.
000B97 (2012)	Susanne A. Schneider [Allemagne] ; John Hardy ; Kailash P. Bhatia	Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations.
001B24 (2010)	Emilia Gatto [Argentine] ; Jose L. Etcheverry [Argentine] ; Daniela P. Converso [Argentine] ; Carla Bidinost ; Alberto Rosa	Pantothenate kinase‐associated neurodegeneration: Novel mutations in the PANK2 gene in an Argentinean young woman
001B47 (2010)	Won Tae Yoon [Corée du Sud] ; Won Yong Lee [Corée du Sud] ; Hee-Young Shin [Corée du Sud] ; Seung-Tae Lee [Corée du Sud] ; Chang-Seok Ki [Corée du Sud]	Novel PANK2 gene mutations in Korean patient with pantothenate kinase‐associated neurodegeneration presenting unilateral dystonic tremor
001C24 (2010)	Annu Aggarwal [Inde] ; Susanne A. Schneider [Allemagne, Royaume-Uni] ; Henry Houlden [Royaume-Uni] ; Monty Silverdale [Royaume-Uni] ; Reema Paudel [Royaume-Uni] ; Coro Paisan-Ruiz [Royaume-Uni] ; Shrinivas Desai [Inde] ; Mihir Munshi [Inde] ; Darshana Sanghvi [Inde] ; John Hardy [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Mohit Bhatt [Inde]	Indian‐subcontinent NBIA: Unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms
003156 (2006)	Juan J. Zarranz [Espagne] ; Juan C. G Mez-Esteban [Espagne] ; Bego A Atarés [Espagne] ; Elena Lezcano [Espagne] ; Maribel Forcadas [Espagne]	Tau‐predominant–associated pathology in a sporadic late‐onset Hallervorden–Spatz syndrome
003424 (2006)	Paola Valentino [Italie] ; Grazia Annesi [Italie] ; Innocenza C. Cir Candiano [Italie] ; Ferdinanda Annesi [Italie] ; Donatella Civitelli [Italie] ; Patrizia Tarantino [Italie] ; Francesco Naso [Italie] ; Patrizia Spadafora [Italie] ; Sara Carrideo [Italie] ; Elvira V. De Marco [Italie] ; Domenico Consoli [Italie] ; Mario Zappia [Italie] ; Antonio Gambardella [Italie] ; Aldo Quattrone [Italie]	Genetic heterogeneity in patients with pantothenate kinase–associated neurodegeneration and classic magnetic resonance imaging eye‐of‐the‐tiger pattern
003819 (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
003D70 (2004)	Madhavi Thomas [États-Unis] ; Susan J. Hayflick [États-Unis] ; Joseph Jankovic [États-Unis]	Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden‐Spatz syndrome) and pantothenate kinase‐associated neurodegeneration
003F79 (2003)	José L. Molinuevo [Espagne] ; María J. Martí [Espagne] ; Rafael Blesa [Espagne] ; Eduardo Tolosa [Espagne]	Pure akinesia: An unusual phenotype of Hallervorden‐Spatz syndrome
004762 (2001)	Brad A. Racette ; Arie Perry [États-Unis] ; Giovanni D'Avossa ; Joel S. Perlmutter [États-Unis]	Late‐Onset neurodegeneration with brain iron accumulation type 1: Expanding the clinical spectrum

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