Adenosine Diphosphate (metabolism) < Adenosine Triphosphatases (genetics) < Adenosine Triphosphatases (physiology)

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List of bibliographic references indexed by Adenosine Triphosphatases (genetics)

Number of relevant bibliographic references: 10.

Ident.	Authors (with country if any)	Title
000444 (2014)	Jean-Marc Trocello [France] ; Souleiman El Balkhi ; France Woimant ; Nadège Girardot-Tinant ; Philippe Chappuis ; Carla Lloyd ; Joël Poupon	Relative exchangeable copper: a promising tool for family screening in Wilson disease.
000893 (2013)	Yves Denoyer ; France Woimant ; Muriel Bost ; Gilles Edan ; Sophie Drapier	Neurological Wilson's disease lethal for the son, asymptomatic in the father.
000B48 (2013)	Maria Stamelou [Royaume-Uni] ; Niall P. Quinn ; Kailash P. Bhatia	"Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide.
001F79 (2009)	Giovanni Antonio Cocco [Italie] ; Georgios Loudianos [Italie] ; Giovanni Mario Pes [Italie] ; Francesco Tolu [Italie] ; Maria Barbara Lepori [Italie] ; Marianna Barrocu [Italie] ; Gian Pietro Sechi [Italie]	“Acquired” hepatocerebral degeneration in a patient heterozygote carrier for a novel mutation in ATP7B gene
003115 (2006)	Graznya Gromadzka [Pologne] ; Harmut H. J. Schmidt [Allemagne] ; Janine Genschel [Allemagne] ; Bettina Bochow [Allemagne] ; M. Rodo [Pologne] ; Beatek Tarnacka [Pologne] ; Thomas Litwin [Pologne] ; Grzegorz Chabik [Pologne] ; Anna Członkowska [Pologne]	p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease
003248 (2006)	Jens Carsten Möller [Allemagne] ; Barbara Leinweber [Allemagne] ; Ida Rissling [Allemagne] ; Wolfgang Herman Oertel [Allemagne] ; Oliver Bandmann [Royaume-Uni] ; Hartmut H. Schmidt [Allemagne]	Prevalence of the H1069Q mutation in ATP7B in discordant pairs with early‐onset Parkinson's Disease
003345 (2006)	Stephan Klebe [Allemagne] ; Günther Deuschl [Allemagne] ; Henning Stolze [Allemagne]	Methylphenidate fails to improve gait and muscle tone in patients with sporadic and hereditary spastic paraplegia
003978 (2005)	Antonio Orlacchio [Italie] ; Toshitaka Kawarai [Canada] ; Fabrizio Gaudiello [Italie] ; Antonio Totaro [Italie] ; Orazio Schillaci [Italie] ; Alessandro Stefani [Italie] ; Roberto Floris [Italie] ; Peter H. St. George-Hyslop [Canada] ; Sandro Sorbi [Italie] ; Giorgio Bernardi [Italie]	Clinical and genetic study of a large SPG4 Italian family
003D68 (2004)	Anthony P. Nicholas [États-Unis] ; Elizabeth O'Hearn [États-Unis] ; Susan E. Holmes [États-Unis] ; Dung-Tsa Chen [États-Unis] ; Russell L. Margolis [États-Unis]	Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation
004467 (2002)	Georg Becker [Allemagne] ; Daniela Berg [Allemagne] ; Niels Kruse [Allemagne] ; Ute Schröder [Allemagne] ; Monika Warmuth-Metz [Allemagne] ; Peter Rieckmann [Allemagne] ; Markus Naumann [Allemagne] ; Karlheinz Reiners [Allemagne]	Evidence for shoulder girdle dystonia in selected patients with cervical disc prolapse

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