| Ident. | Authors (with country if any) | Title |
|---|
| 000083 (2013) |
Suzanne Lesage [France] ; Mathieu Anheim [France] ; Franck Letournel ; Luc Bousset ; Aurélie Honoré [France] ; Nelly Rozas [France] ; Laura Pieri ; Karine Madiona ; Alexandra Dürr [France] ; Ronald Melki ; Christophe Verny [France] ; Alexis Brice [France] | G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndrome |
| 000156 (2012) |
Joanna L. Elson [Royaume-Uni] ; Mary G. Sweeney [Royaume-Uni] ; Vincent Procaccio [France] ; John W. Yarham [Royaume-Uni] ; Antonio Salas [Espagne] ; Qing-Peng Kong [République populaire de Chine] ; Francois H. Van Der Westhuizen [Afrique du Sud] ; Robert D. S. Pitceathly [Royaume-Uni] ; David R. Thorburn [Australie] ; Marie T. Lott [États-Unis] ; Douglas C. Wallace [États-Unis] ; Robert W. Taylor [Royaume-Uni] ; Robert Mcfarland [Royaume-Uni] | Toward a mtDNA locus‐specific mutation database using the LOVD platform |
| 000221 (2012) |
Aurélie Méneret [France] ; Cyril Mignot [France] ; Isabelle An [France] ; Marie-Odile Habert [France] ; Aurélia Jacquette [France] ; Marie Vidailhet [France] ; Thierry Bienvenu [France] ; Emmanuel Roze [France] | Generalized dystonia, athetosis, and parkinsonism associated with FOXG1 mutation |
| 000222 (2012) |
Ryosuke Miyamoto [Japon] ; Satoshi Goto [Japon] ; Wataru Sako [Japon] ; Ai Miyashiro [Japon] ; Isabelle Kim [France] ; Fabienne Escande [France] ; Masafumi Harada [Japon] ; Ryoma Morigaki [Japon] ; Kotaro Asanuma [Japon] ; Yoshifumi Mizobuchi [Japon] ; Shinji Nagahiro [Japon] ; Yuishin Izumi [Japon] ; Ryuji Kaji [Japon] | Generalized dystonia in a patient with a novel mutation in the GLUD1 gene |
| 000533 (2010) |
Paola S. Denora [France, Italie] ; Knut Brockmann [Allemagne] ; Marianna Ciccolella [Italie] ; Jeremy Truchetto [France] ; Giovanni Stevanin [France, Italie] ; Filippo M. Santorelli [Italie] | Identification of a de novo mutation in SPG11 |
| 000647 (2009) |
M. Olivier [France] ; A. Petitjean [France] ; J. Teague [Royaume-Uni] ; S. Forbes [Royaume-Uni] ; J. K. Dunnick [États-Unis] ; J. T. Den Dunnen [Pays-Bas] ; A. Langer D [Norvège] ; J. M. Wilkinson [Royaume-Uni] ; M. Vihinen [Finlande, Australie] ; R. G. H. Cotton [Finlande] ; P. Hainaut [France] | Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: Proposed guidelines for improving data collection, distribution, and integration |
| 000674 (2009) |
O. Outteryck [France] ; P. Richard [France] ; A. Lacour [France] ; E. Fournier [France] ; H. Zéphir [France] ; K. Gaudon [France] ; B. Eymard [France] ; D. Hantaï [France] ; P. Vermersch [France] ; T. Stojkovic [France] | Novel ϵ subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome |
| 000768 (2008) |
Amir Glik [Israël] ; Isabelle Vuillaume [France] ; David Devos [France] ; Rivka Inzelberg [Israël] | Psychosis, short stature in benign hereditary chorea: A novel thyroid transcription factor‐1 mutation |
| 000855 (2007) |
Rebecca E. Saunders [Royaume-Uni] ; Cynthia Abarrategui-Garrido [Espagne] ; Véronique Frémeaux-Bacchi [France] ; Elena Goicoechea De Jorge [Espagne] ; Timothy H. J. Goodship [Royaume-Uni] ; Margarita L Pez Trascasa [Espagne] ; Marina Noris [Italie] ; Isabel Maria Ponce Castro [Espagne] ; Giuseppe Remuzzi [Italie] ; Santiago Rodríguez De C Rdoba [Espagne] ; Pilar Sánchez-Corral [Espagne] ; Christine Skerka [Allemagne] ; Peter F. Zipfel [Allemagne] ; Stephen J. Perkins [Royaume-Uni] | The interactive Factor H–atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models |
| 000884 (2007) |
Roseline Froissart [France] ; Isabel Moreira Da Silva [Portugal] ; Irène Maire [France] | Mucopolysaccharidosis type II: an update on mutation spectrum |
| 000928 (2007) |
Lorraine N. Clark [États-Unis] ; Eneli Haamer [Estonie] ; Helen Mejia-Santana [États-Unis] ; Juliette Harris [États-Unis] ; Suzanne Lesage [France] ; Alexandra Durr [France] ; Sabine Janin Bs [France] ; Katja Hedrich [Allemagne] ; Elan D. Louis [États-Unis] ; Lucien J. Cote [États-Unis] ; Howard Andrews [États-Unis] ; Stanley Fahn [États-Unis] ; Cheryl Waters [États-Unis] ; Blair Ford [États-Unis] ; Steven Frucht [États-Unis] ; William Scott [États-Unis] ; Christine Klein [Allemagne] ; Alexis Brice [France] ; Hanno Roomere [Estonie] ; Ruth Ottman [États-Unis] ; Karen Marder [États-Unis] | Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene |
| 000995 (2006) |
Manuel Schiff [France] ; Manuele Miné [France] ; Michèle Brivet [France] ; Cécile Marsac [France] ; Monique Elmaleh-Bergés [France] ; Philippe Evrard [France] ; Hélène Ogier De Baulny [France] | Leigh's disease due to a new mutation in the PDHX gene |
| 000B13 (2005) |
Abdelaziz Tlili [Tunisie] ; Ilhem Charfedine [Tunisie] ; Imed Lahmar [Tunisie] ; Zaineb Benzina [Tunisie] ; Ben Amor Mohamed [Tunisie] ; Dominique Weil [France] ; Nabil Idriss [Tunisie] ; Mohamed Drira [Tunisie] ; Saber Masmoudi [Tunisie] ; Hammadi Ayadi [Tunisie] | Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non‐syndromic recessive hearing loss |
| 000B95 (2004) |
Anne Roubergue [France] ; Emmanuelle Apartis [France] ; Marie Vidailhet [France] ; Cyril Mignot [France] ; Anna Tullio-Pelet [France] ; Stanislas Lyonnet [France] ; Thierry Billette De Villemeur [France] | Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation |
| 000C44 (2004) |
C. Goizet [France] ; R. Ben Yaou [France] ; L. Demay [France] ; P. Richard [France] ; S. Bouillot [France] ; M. Rouanet [France] ; E. Hermosilla [France] ; G. Le Masson [France] ; A. Lagueny [France] ; G. Bonne [France] ; X. Ferrer [France] | A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia |
| 000C83 (2003) |
Sergei N. Illarioshkin [Russie] ; Magali Periquet [France] ; Nina Rawal [France] ; Christoph B. Lücking [France] ; Tatyana B. Zagorovskaya [Russie] ; Pyotr A. Slominsky [Russie] ; Olga V. Miloserdova [Russie] ; Elena D. Markova [Russie] ; Svetlana A. Limborska [Russie] ; Irina A. Ivanova-Smolenskaya [Russie] ; Alexis Brice [France] | Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism |
| 000F31 (2001) |
Gérard Lucotte [France] | Frequency Analysis and Allele Map in Favor of the Celtic Origin of the C282Y Mutation of Hemochromatosis |
| 001295 (1999) |
B. Sanjay Harhangi [Pays-Bas] ; Matthew J. Farrer [États-Unis] ; Sarah Lincoln [États-Unis] ; Vincenzo Bonifati [Italie] ; Giuseppe Meco [Italie] ; Giuseppe De Michele [Italie] ; Alexis Brice [France] ; Alexandra Dürr [France] ; Maria Martinez [France] ; Thomas Gasser [Allemagne] ; Benjamin Bereznai [Allemagne] ; Jenny R. Vaughan [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; John Hardy [États-Unis] ; Ben A. Oostra [Pays-Bas] ; Monique M. B. Breteler [Pays-Bas] | The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease |
| 001458 (1998) |
Jenny Vaughan [Royaume-Uni] ; Alexandra Durr [France] ; Johann Tassin [France] ; Benjamin Bereznai [Allemagne] ; Thomas Gasser [Allemagne] ; Vincenzo Bonifati [Italie] ; Giuseppe De Michele [Italie] ; Edito Fabrizio [Italie] ; Gianpiero Volpe [Italie] ; O. Bandmann [Royaume-Uni] ; William G. Johnson [États-Unis] ; Lawrence I. Golbe [États-Unis] ; Monique Breteler [Pays-Bas] ; Giuseppe Meco [France] ; Yves Agid [France] ; Alexis Brice [Royaume-Uni] ; C. David Marsden [Royaume-Uni] ; C. David Wood [Royaume-Uni] | The α‐synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: A study of 230 European cases |
| 001767 (1996) |
G. Lucotte [France] ; J. Turpin [France] ; N. Gérard [France] ; S. Panserat [France] ; R. Krishnamoorthy [France] | Mutation frequencies of the cytochrome CYP2D6 gene in Parkinson disease patients and in families |
| 001934 (1995) |
F. Degoul ; M. Diry ; F. Viader ; E. Boitier ; C. Marsac ; B. Eymard [France] ; N. Romero [France] ; M. B. Delisle ; B. Lechevalier [France] ; F. Chapon [France] | Intrafamilial heterogeneous clinical presentation of the mitochondrial 3243 MELAS mutation; molecular investigations among four generations |
