| Ident. | Authors (with country if any) | Title |
|---|
| 000F10 (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. |
| 001633 (2011) |
Susanne A. Schneider [Allemagne, Royaume-Uni] ; Alfredo Ramirez [Allemagne] ; Kaveh Shafiee [Iran] ; Frank J. Kaiser [Allemagne] ; Alev Erogullari [Allemagne] ; Norbert Brüggemann [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 |
| 001797 (2011) |
Julia Schicks [Allemagne] ; Matthis Synofzik [Allemagne] ; Hjörvar Pétursson [Allemagne] ; Johanna Huttenlocher [Allemagne] ; Matthias Reimold [Allemagne] ; Ludger Schöls [Allemagne] ; Peter Bauer [Allemagne] | Atypical juvenile parkinsonism in a consanguineous SPG15 family |
| 001810 (2011) |
Beenish Arif [Pakistan] ; Anne Grünewald [Allemagne] ; Amara Fatima [Pakistan] ; Alfredo Ramirez [Allemagne] ; Arif Ali [Pakistan] ; Nobert Brüggemann [Allemagne] ; Jens Würfel [Allemagne] ; Arndt Rolfs [Allemagne] ; Katja Lohmann [Allemagne] ; Akbar Malik [Pakistan] ; Christine Klein [Allemagne] ; Sadaf Naz [Pakistan] | An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech |
| 002114 (2009) |
Jon Infante [Espagne] ; José Berciano [Espagne] ; Pascual Sánchez-Juan [Espagne] ; Antonio García [Espagne] ; Alessio Di Fonzo [Pays-Bas] ; Guido Breedveld [Pays-Bas] ; Ben Oostra [Pays-Bas] ; Vincenzo Bonifati [Pays-Bas] | Pseudo‐orthostatic and resting leg tremor in a large spanish family with homozygous truncating parkin mutation |
| 002553 (2008) |
Shu-Shan Zhang [République populaire de Chine] ; Qin Chen [République populaire de Chine] ; Xue-Ping Chen [République populaire de Chine] ; Jian-Gang Wang [République populaire de Chine] ; Jean-Marc Burgunder [République populaire de Chine] ; Hui-Fang Shang [République populaire de Chine] ; Jean-Marc Burgunder [Suisse] ; Yuan Yang [République populaire de Chine] | Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum |
| 002835 (2008) |
Susanne A. Schneider [Royaume-Uni] ; Mary M. Robertson [Royaume-Uni] ; Renata Rizzo [Italie] ; Jeremy Turk [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Michael Orth [Royaume-Uni, Allemagne] | Fragile X syndrome associated with tic disorders |
| 002929 (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 |
| 002D17 (2007) |
Yuhei Takado [Japon] ; Kenju Hara [Japon] ; Takayoshi Shimohata [Japon] ; Susumu Tokiguchi [Japon] ; Osamu Onodera [Japon] ; Masatoyo Nishizawa [Japon] | New mutation in the non‐gigantic exon of SACS in Japanese siblings |
| 002D20 (2007) |
Lilach Ephraty [Israël] ; Omer Porat [Israël] ; David Israeli [Israël] ; Oren S. Cohen [Israël] ; Olga Tunkel [Israël] ; Shinar Yael [Israël] ; Yasaku Hatano [Japon] ; Nobutaka Hattori [Japon] ; Sharon Hassin-Baer [Israël] | Neuropsychiatric and cognitive features in autosomal‐recessive early parkinsonism due to PINK1 mutations |
| 003200 (2006) |
Laura Canafoglia [Italie] ; Marianna Bugiani [Italie] ; Graziella Uziel [Italie] ; Bernardo Dalla Bernardina [Italie] ; Claudia Ciano [Italie] ; Vidmer Scaioli [Italie] ; Giuliano Avanzini [Italie] ; Silvana Franceschetti [Italie] ; Ferruccio Panzica [Italie] | Rhythmic cortical myoclonus in Niemann–Pick disease type C |
| 003A08 (2005) |
Paolo Moretti [États-Unis] ; Peter Hedera [États-Unis] ; John Wald [États-Unis] ; John Fink [États-Unis] | Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family |
| 003D71 (2004) |
Uday Muthane [Inde] ; Yasha Chickabasaviah [Inde] ; Chris Kaneski [États-Unis] ; Susurla K. Shankar [Inde] ; Gayathri Narayanappa [Inde] ; Rita Christopher [Inde] ; Srikanth Subbamma Govindappa [Inde] | Clinical features of adult GM1 gangliosidosis: Report of three Indian patients and review of 40 cases |
| 003E33 (2004) |
Okan Dogu [Turquie, États-Unis] ; Janel Johnson [États-Unis] ; Dena Hernandez [États-Unis] ; Melissa Hanson [États-Unis] ; John Hardy [États-Unis] ; Hulya Apaydin [Turquie] ; Sibel Özekmekçi [Turquie] ; Serhan Sevim [Turquie] ; Katrina Gwinn-Hardy [États-Unis] ; Andrew Singleton [États-Unis] | A consanguineous Turkish family with early‐onset Parkinson's disease and an exon 4 parkin deletion |
| 004153 (2003) |
Marieke Dekker [Pays-Bas] ; Vincenzo Bonifati [Pays-Bas, Italie] ; John Van Swieten [Pays-Bas] ; Nico Leenders [Pays-Bas] ; Robert-Jan Galjaard [Pays-Bas] ; Pieter Snijders [Pays-Bas] ; Marten Horstink [Pays-Bas] ; Peter Heutink [Pays-Bas] ; Ben Oostra [Pays-Bas] ; Cornelia Van Duijn [Pays-Bas] | Clinical features and neuroimaging of PARK7‐linked parkinsonism |
| 004592 (2002) |
Padraic J. Grattan-Smith [Australie] ; Ron A. Wevers [Pays-Bas] ; Gerry C. Steenbergen-Spanjers [Pays-Bas] ; Victor S. C. Fung [Australie] ; John Earl [Australie] ; Bridget Wilcken [Australie] | Tyrosine hydroxylase deficiency: Clinical manifestations of catecholamine insufficiency in infancy |
| 004744 (2001) |
Saeed Bohlega [Arabie saoudite] ; Abdulrahman Al-Tahan [Arabie saoudite] ; Marios Kambouris [Arabie saoudite] ; Madai Divakaran [Arabie saoudite] | Neurodegenerative Huntington‐like disorder |
| 004852 (2001) |
Pierre-François Pradat [France] ; Corinne Dupel-Pottier [France] ; Lucette Lacomblez [France] ; François Salachas [France] ; Vincent Meininger [France] ; Lucette Lacomblez [France] ; Laurent Spelle [France] ; Isabelle Bonnaud [France] ; Marie Joao Ribeiro [France] ; Philippe Remy [France] ; Yves Samson [France] | Case report of pallido‐pyramidal disease with supplementary motor area involvement |
| 004994 (2000) |
Joseph J. Higgins [États-Unis] ; Kerri Kluetzman [États-Unis] ; Jose Berciano [Espagne] ; Onofre Combarros [Espagne] ; Joseph M. Loveless [États-Unis] | Posterior column ataxia and retinitis pigmentosa: A distinct clinical and genetic disorder |
| 005234 (1997) |
Grattan‐Smith [Australie] ; B. Wilcken [Australie] ; P. G. Procopis [Australie] ; G. A. Wise [Australie] | The neurological syndrome of infantile cobalamin deficiency: Developmental regression and involuntary movements |
| 005904 (1995) |
Bohlega [Arabie saoudite] ; B. Stigsby [Arabie saoudite] ; M. Z. Al-Kawi [Arabie saoudite] ; D. R. Mclean [Arabie saoudite] ; P. Ozand [Arabie saoudite] ; S. Omer [Arabie saoudite] ; P. Coates [Arabie saoudite] | Familial tremulous and myoclonic dystonia with white matter changes in brain magnetic resonance imaging |
