Connexins (metabolism) < Consanguinity < Consciousness

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 21.
[0-20] [0 - 20][0 - 21][20-20][20-40]

Ident.	Authors (with country if any)	Title
000285 (2000)	J J Higgins [États-Unis] ; K. Kluetzman ; J. Berciano ; O. Combarros ; J M Loveless	Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder.
000517 (2001)	S. Bohlega [Arabie saoudite] ; A. Al-Tahan ; M. Kambouris ; M. Divakaran	Neurodegenerative Huntington-like disorder.
000559 (2001)	P F Pradat [France] ; C. Dupel-Pottier ; L. Lacomblez ; F. Salachas ; V. Meininger ; L. Lacomblez ; L. Spelle ; I. Bonnaud ; M J Ribeiro ; P. Remy ; Y. Samson	Case report of pallido-pyramidal disease with supplementary motor area involvement.
000729 (2002)	Padraic J. Grattan-Smith [Australie] ; Ron A. Wevers ; Gerry C. Steenbergen-Spanjers ; Victor S C. Fung ; John Earl ; Bridget Wilcken	Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy.
000A94 (2003)	Marieke Dekker [Pays-Bas] ; Vincenzo Bonifati ; John Van Swieten ; Nico Leenders ; Robert-Jan Galjaard ; Pieter Snijders ; Marten Horstink ; Peter Heutink ; Ben Oostra ; Cornelia Van Duijn	Clinical features and neuroimaging of PARK7-linked parkinsonism.
000E72 (2004)	Okan Dogu [Turquie] ; Janel Johnson ; Dena Hernandez ; Melissa Hanson ; John Hardy ; Hulya Apaydin ; Sibel Ozekmekçi ; Serhan Sevim ; Katrina Gwinn-Hardy ; Andrew Singleton	A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion.
000F76 (2004)	Uday Muthane [Inde] ; Yasha Chickabasaviah ; Chris Kaneski ; Susurla K. Shankar ; Gayathri Narayanappa ; Rita Christopher ; Srikanth Subbamma Govindappa	Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases.
001049 (2005)	Paolo Moretti [États-Unis] ; Peter Hedera ; John Wald ; John Fink	Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family.
001718 (2006)	Laura Canafoglia [Italie] ; Marianna Bugiani ; Graziella Uziel ; Bernardo Dalla Bernardina ; Claudia Ciano ; Vidmer Scaioli ; Giuliano Avanzini ; Silvana Franceschetti ; Ferruccio Panzica	Rhythmic cortical myoclonus in Niemann-Pick disease type C.
001A59 (2007)	Lilach Ephraty [Israël] ; Omer Porat ; David Israeli ; Oren S. Cohen ; Olga Tunkel ; Shinar Yael ; Yasaku Hatano ; Nobutaka Hattori ; Sharon Hassin-Baer	Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations.
001B06 (2007)	Yuhei Takado ; Kenju Hara ; Takayoshi Shimohata ; Susumu Tokiguchi ; Osamu Onodera ; Masatoyo Nishizawa	New mutation in the non-gigantic exon of SACS in Japanese siblings.
002075 (2008)	Shu-Shan Zhang ; Qin Chen ; Xue-Ping Chen ; Jian-Gang Wang ; Jean-Marc Burgunder ; Hui-Fang Shang ; Jean-Marc Burgunder ; Yuan Yang	Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum.
002085 (2008)	Susanne A. Schneider [Royaume-Uni] ; Mary M. Robertson ; Renata Rizzo ; Jeremy Turk ; Kailash P. Bhatia ; Michael Orth	Fragile X syndrome associated with tic disorders.
002329 (2008)	Maria G. Motlagh [États-Unis, Iran] ; Arshia Seddigh [Iran, Royaume-Uni] ; Behnoosh Dashti [Iran] ; James F. Leckman [États-Unis] ; Javad Alaghband-Rad [Iran, Canada]	Consanguineous Iranian Kindreds with Severe Tourette Syndrome
002402 (2009)	Jon Infante ; José Berciano ; Pascual Sánchez-Juan ; Antonio García ; Alessio Di Fonzo ; Guido Breedveld ; Ben Oostra ; Vincenzo Bonifati	Pseudo-orthostatic and resting leg tremor in a large Spanish family with homozygous truncating parkin mutation.
003046 (2011)	Susanne A. Schneider [Allemagne] ; Alfredo Ramirez ; Kaveh Shafiee ; Frank J. Kaiser ; Alev Erogullari ; Norbert Brüggemann ; Susen Winkler ; Ideh Bahman ; Alma Osmanovic ; Mohammad A. Shafa ; Kailish P. Bhatia ; Hossein Najmabadi ; Christine Klein ; Katja Lohmann	Homozygous THAP1 mutations as cause of early-onset generalized dystonia.
003097 (2011)	Julia Schicks ; Matthis Synofzik ; Hjörvar Pétursson ; Johanna Huttenlocher ; Matthias Reimold ; Ludger Schöls ; Peter Bauer	Atypical juvenile parkinsonism in a consanguineous SPG15 family.
003390 (2011)	Beenish Arif [Pakistan] ; Anne Grünewald ; Amara Fatima ; Alfredo Ramirez ; Arif Ali ; Nobert Brüggemann ; Jens Würfel ; Arndt Rolfs ; Katja Lohmann ; Akbar Malik ; Christine Klein ; Sadaf Naz	An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech.
003630 (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.
004709 (1995)	S. Bohlega [Arabie saoudite] ; B. Stigsby ; M Z Al-Kawi ; D R Mclean ; P. Ozand ; S. Omer ; P. Coates	Familial tremulous and myoclonic dystonia with white matter changes in brain magnetic resonance imaging.
004C49 (1997)	P J Grattan-Smith [Australie] ; B. Wilcken ; P G Procopis ; G A Wise	The neurological syndrome of infantile cobalamin deficiency: developmental regression and involuntary movements.

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