Mutation And NotLuc Defebvre

List of bibliographic references

Number of relevant bibliographic references: 16.

Ident.	Authors (with country if any)	Title
000030	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.
000123	Aurélie Meneret [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
000124	Ariane Choumert [France] ; Alice Poisson [France] ; Jerome Honnorat [France] ; Isabelle Le Ber [France] ; Agnes Camuzat [France] ; Emmanuel Broussolle [France] ; Stephane Thobois [France]	G303V Tau Mutation Presenting with Progressive Supranuclear Palsy-Like Features
000158	Salima Assami [Algérie] ; Hamid Azzedine [France] ; Sonia Nouioua [Algérie] ; Emeline Mundwiller [France] ; Soulaiman Mahoui [Algérie] ; Samira Makri ; Meriam Djemai [Algérie] ; Djamel Grid [France] ; Alexis Brice [France] ; Tarik Hamadouche [Algérie] ; Giovanni Stevanin [France] ; Meriem Tazir [Algérie]	Pantothenate kinase–associated neurodegeneration: Clinical description of 10 patients and identification of new mutations
000236	Nadège Limousin [France] ; Eric Konofal [France] ; Elias Karroum [France] ; Ebba Lohmann [France] ; Ioannis Theodorou [France] ; Alexandra Dürr [France] ; Isabelle Arnulf [France]	Restless legs syndrome, rapid eye movement sleep behavior disorder, and hypersomnia in patients with two parkin mutations
000262	Fabienne Ory-Magne [France] ; Christine Brefel-Courbon [France] ; Pierre Payoux [France] ; Sabrina Debruxelles [France] ; Igor Sibon [France] ; Cyril Goizet [France] ; Pierre Labauge [France] ; Patrice Menegon [France] ; Emmanuelle Uro-Coste [France] ; Bernardino Ghetti [États-Unis] ; Marie Bernadetle Delisle [France] ; Ruben Vidal [États-Unis] ; Olivier Rascol [France]	Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498‐499InsTC)
000284	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
000303	Ebba Lohmann [France] ; Marie-Laure Welter [France] ; Valérie Fraix [France] ; Paul Krack [France] ; Suzanne Lesage [France] ; Sophie Laine [France] ; Marie-Laure Tanguy [France] ; Jean-Luc Houeto [France] ; Valérie Mesnage [France] ; Pierre Pollak [France] ; Alexandra Durr [France] ; Yves Agid [France] ; Alexis Brice [France]	Are parkin patients particularly suited for deep‐brain stimulation?
000315	Michael Schüpbach [France] ; Ebba Lohmann [France] ; Mathieu Anheim [France] ; Suzanne Lesage [France] ; Virginie Czernecki [France] ; Sadek Yaici [France] ; Yulia Worbe [France] ; Perrine Charles [France] ; Marie-Laure Welter [France] ; Pierre Pollak [France] ; Alexandra Dürr [France] ; Yves Agid [France] ; Alexis Brice [France]	Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations
000334	Mélissa Frédéric [France] ; Estelle Lucarz [France] ; Christine Monino [France] ; Céline Saquet [France] ; Delphine Thorel [France] ; Mireille Claustres [France] ; Tuffery-Giraud Sylvie [France] ; Collod-Béroud Gwenaelle [France]	First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population
000336	Stéphane Thobois [France] ; Hélène Gervais-Bernard [France] ; Jing Xie-Brustolin [France] ; Julie Zyss [France] ; Karine Ostrowsky [France] ; Emmanuel Broussolle [France]	Evidence for progressive changes in clinical presentation of myoclonus‐dystonia
000345	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
000430	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
000452	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
000500	A. Danek [Allemagne] ; F. Tison [France] ; J. Rubio [Royaume-Uni] ; M. Oechsner [Allemagne] ; W. Kalckreuth [Allemagne] ; A. P. Monaco [Royaume-Uni]	The chorea of McLeod syndrome
000530	Sergei N. Illarioshkin [Russie] ; Irina A. Ivanova-Smolenskaya [Russie] ; Rahmatullo A. Rahmonov [Russie] ; Elena D. Markova [Russie] ; Giovanni Stevanin [France] ; Alexis Brice [France]	Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan

Wicri

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024