Homozygotie And NotMassimo Pandolfo

List of bibliographic references

Number of relevant bibliographic references: 10.

Ident.	Authors (with country if any)	Title
000001	Maja Kojovic [Royaume-Uni] ; Una-Marie Sheerin [Royaume-Uni] ; Ignacio Rubio-Agusti [Royaume-Uni] ; Anirban Saha [Royaume-Uni] ; Jose Bras [Royaume-Uni] ; Vaneesha Gibbons [Royaume-Uni] ; Rodger Palmer [Royaume-Uni] ; Henry Houlden [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]	Young-Onset Parkinsonism due to Homozygous Duplication of α-Synuclein in a Consanguineous Family
000578	Susanne A. Schneider [Allemagne, Royaume-Uni] ; Alfredo Ramirez [Allemagne] ; Kaveh Shafiee [Iran] ; Frank J. Kaiser [Allemagne] ; Alev Erogullari [Allemagne] ; Norbert Bruggemann [Allemagne] ; Susen Winkler [Allemagne] ; Ideh Bahman [Iran] ; Alma Osmanovic [Allemagne] ; Mohammad A. Shafa [Iran] ; Kailish P. Bhatia [Royaume-Uni] ; Hossein Najmabadi [Iran] ; Christine Klein [Allemagne] ; Katja Lohmann [Allemagne]	Homozygous THAP1 Mutations as Cause of Early-Onset Generalized Dystonia
000C33	Tobias Warnecke [Allemagne] ; Thomas Duning [Allemagne] ; Anja Schirmacher [Allemagne] ; Siawoosh Mohammadi [Allemagne] ; Wolfram Schwindt [Allemagne] ; Hubertus Lohmann [Allemagne] ; Rainer Dziewas [Allemagne] ; Michael Deppe [Allemagne] ; E. Bernd Ringelstein [Allemagne] ; Peter Young [Allemagne]	A Novel Splice Site Mutation in the SPG7 Gene Causing Widespread Fiber Damage in Homozygous and Heterozygous Subjects
000D87	Nicola Pavese [Royaume-Uni] ; Naheed L. Khan [Royaume-Uni] ; Christoph Scherfler [Royaume-Uni] ; Lisa Cohen [Royaume-Uni] ; David J. Brooks [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Niall P. Quinn [Royaume-Uni] ; Andrew Lees (neurologue) [Royaume-Uni] ; Paola Piccini [Royaume-Uni]	Nigrostriatal Dysfunction in Homozygous and Heterozygous Parkin Gene Carriers: An 18F-Dopa PET Progression Study
001312	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
001984	Chiara Criscuolo [Italie] ; Giampiero Volpe [Italie] ; Anna De Rosa [Italie] ; Andrea Varrone [Italie] ; Roberta Marongiu [Italie] ; Pietro Mancini [Italie] ; Elena Salvatore [Italie] ; Bruno Dallapiccola [Italie] ; Alessandro Filla [Italie] ; Enza Maria Valente [Italie] ; Giuseppe De Michele [Italie]	PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism
001A69	Cindy Zadikoff [Canada] ; Ekaterina Rogaeva [Canada] ; Ana Djarmati [Allemagne] ; Christine Sato [Canada] ; Shabnam Salehi-Rad [Canada] ; Peter St. George-Hyslop [Canada] ; Christine Klein [Canada, Allemagne] ; Anthony E. Lang [Canada]	Homozygous and heterozygous PINK1 mutations : Considerations for diagnosis and care of parkinson's disease patients
002210	Marianna Capecci [Italie] ; Luca Passamonti [Italie] ; Ferdinanda Annesi [Italie] ; Grazia Annesi [Italie] ; Michele Bellesi [Italie] ; Innocenza Claudia Ciro Candiano [Italie] ; Riccardo Ricciuti [Italie] ; Maurizio Iacoangeli [Italie] ; Massimo Scerrati [Italie] ; Mario Zappia [Italie] ; Patrizia Tarantino [Italie] ; Elvira Valeria De Marco [Italie] ; Donatella Civitelli [Italie] ; Sara Carrideo [Italie] ; Leandro Provinciali [Italie] ; Maria Gabriella Ceravolo [Italie] ; Aldo Quattrone [Italie]	Chronic bilateral subthalamic deep brain stimulation in a patient with homozygous deletion in the parkin gene
002426	Onofre Combarros [Espagne] ; Jon Infante [Espagne] ; Javier Llorca [Espagne] ; José Berciano [Espagne]	Interleukin-1A (-889) genetic polymorphism increases the risk of multiple system atrophy
003007	M. G. Hanna [Royaume-Uni] ; M. B. Davis [Royaume-Uni] ; M. G. Sweeney [Royaume-Uni] ; M. Noursadeghi [Royaume-Uni] ; C. J. Ellis [Royaume-Uni] ; P. Elliot [Royaume-Uni] ; N. W. Wood [Royaume-Uni] ; C. D. Marsden [Royaume-Uni]	Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion

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