false < familial < families

Facettes :

List of bibliographic references indexed by familial

Number of relevant bibliographic references: 102.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000108 (2015)		Primary familial brain calcification: genetic analysis and clinical spectrum.
000160 (2015)	Franziska Hopfner [Allemagne] ; Stefanie H. Müller [Allemagne] ; Delia Lorenz [Allemagne] ; Silke Appenzeller [Allemagne] ; Stephan Klebe [Allemagne] ; Günther Deuschl [Allemagne] ; Gregor Kuhlenb Umer [Allemagne]	Mutations in HTRA2 are not a common cause of familial classic ET.
000197 (2015)	Ryosuke Miyamoto [Japon] ; Toshitaka Kawarai [Japon] ; Ryosuke Oki [Japon] ; Shinichi Matsumoto [Japon] ; Yuishin Izumi [Japon] ; Ryuji Kaji [Japon]	Lack of C9orf72 expansion in 406 sporadic and familial cases of idiopathic dystonia in Japan.
000238 (2015)	Maria Skaalum Petersen ; Sara Bech ; Ekaterina Nosova ; Jan Aasly ; Matthew J. Farrer	Familial aggregation of Parkinson's disease in the Faroe Islands.
000349 (2015)	Ana Westenberger [Allemagne] ; Christine Klein [Allemagne]	A new gene for primary familial brain calcification: The importance of phosphate homeostasis.
000466 (2014)	Ilaria Taglia [Pays-Bas] ; Andrea Mignarri ; Simone Olgiati ; Elisabetta Menci ; Patrizia L. Petrocelli ; Guido J. Breedveld ; Cesa Scaglione ; Paolo Martinelli ; Antonio Federico ; Vincenzo Bonifati ; Maria Teresa Dotti	Primary familial brain calcification: Genetic analysis and clinical spectrum.
000572 (2014)	Pietro Cortelli [Italie] ; Margherita Fabbri ; Giovanna Calandra-Buonaura ; Sabina Capellari ; Paolo Tinuper ; Piero Parchi ; Elio Lugaresi	Gait disorders in fatal familial insomnia.
000585 (2014)	Carlos Hernández-Lahoz [Espagne] ; Luis Rodrigo-Sáez ; Juan Vega-Villar ; Gerard Mauri-Capdevila ; Jorge Mier-Juanes	Familial gluten ataxia.
000693 (2014)	Paolo Calabresi [Italie] ; Veronica Ghiglieri	"Lazy" nigrostriatal synapses in the heterozygous PINK1 mouse model of familial Parkinson's disease.
000866 (2013)	Chang-He Shi ; Shi-Lei Sun ; Jun-Ling Wang ; Ai-Qin Liu ; Wang Miao ; Chandra Avinash ; Xiao Mao ; Bei-Sha Tang ; Yu-Ming Xu	PRRT2 gene mutations in familial and sporadic paroxysmal kinesigenic dyskinesia cases.
000988 (2013)	Maria Stamelou [Allemagne] ; Giovanni Cossu ; Mark J. Edwards ; Daniela Murgia ; Isabel Pareés ; Maurizio Melis ; Kailash P. Bhatia	Familial psychogenic movement disorders.
000989 (2013)	Magdalini Krommyda ; Georgia Xiromerisiou ; Efstathios Ameridis ; Dimitrios Tsiptsios ; Theocharis Tsironis ; Iakovos Tsiptsios	Familial case of speech-induced tongue-protrusion dystonia.
000B90 (2012)	Ilaria Guella ; Giulia Soldà ; Roberto Cilia ; Gianni Pezzoli ; Rosanna Asselta ; Stefano Duga ; Stefano Goldwurm	The Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease.
000C74 (2012)	Seán O'Dowd [Irlande (pays)] ; Brian Murray ; Kinley Roberts ; Gemma Cummins ; Brian Magennis ; Timothy Lynch	Pallidopontonigral degeneration: a deceptive familial tauopathy.
000D90 (2012)	Katja Lohmann [Allemagne] ; Christine Klein	Familial idiopathic basal ganglia calcification: unraveling the first genetic cause.
000E36 (2012)	Steven J. Frucht [États-Unis]	Commentary on "Pallidopontonigral degeneration: a deceptive familial tauopathy".
000F64 (2012)	Ilaria Guella [Italie] ; Giulia Solda [Italie] ; Roberto Cilia [Italie] ; Gianni Pezzoli [Italie] ; Rosanna Asselta [Italie] ; Stefano Duga [Italie] ; Stefano Goldwurm [Italie]	The Asp620Asn Mutation in VPS35 Is Not a Common Cause of Familial Parkinson's Disease
001037 (2012)	Sean O'Dowd [Irlande (pays)] ; Brian Murray [Irlande (pays)] ; Kinley Roberts [Irlande (pays)] ; Gemma Cummins [Irlande (pays)] ; Brian Magennis [Irlande (pays)] ; Timothy Lynch [Irlande (pays)]	Pallidopontonigral Degeneration: A Deceptive Familial Tauopathy
001524 (2011)	Susanne A. Schneider [Allemagne]	NBIA due to FA2H gene mutations is allelic with hereditary spastic paraplegia (SPG35) and a form of familial leukodystrophy
001527 (2011)	Nutan Sharma [États-Unis] ; Ioanna A. Armata [États-Unis] ; Trisha J. Multhaupt-Buell [États-Unis] ; Laurie J. Ozelius [États-Unis] ; Winnie Xin [États-Unis] ; Katherine B. Sims [États-Unis]	Mutation in 5′ upstream region of GCHI gene causes familial dopa‐responsive dystonia
001619 (2011)	Takefumi Hitomi [Japon] ; Akio Ikeda [Japon] ; Takayuki Kondo [Japon] ; Hisaji Imamura [Japon] ; Morito Inouchi [Japon] ; Riki Matsumoto [Japon] ; Kiyohito Terada [Japon] ; Masutaro Kanda [Japon] ; Masao Matsuhashi [Japon] ; Takashi Nagamine [Japon] ; Hiroshi Shibasaki [Japon] ; Ryosuke Takahashi [Japon]	Increased cortical hyperexcitability and exaggerated myoclonus with aging in benign adult familial myoclonus epilepsy

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