receptors < recessive < recipient

Facettes :

List of bibliographic references indexed by recessive

Number of relevant bibliographic references: 27.
[0-20] [0 - 20][0 - 27][20-26][20-40]

Ident.	Authors (with country if any)	Title
000158 (2015)	Kishore Raj Kumar [Australie]	Mutations in hippocalcin and autosomal recessive dystonia: a role for perturbed calcium signaling?
000216 (2015)	Bettina Balint [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]	Hot topic: Recessive mutations in the a3(VI) collagen gene COL6A3 cause early-onset isolated dystonia.
000278 (2015)	Roberto Erro [Royaume-Uni] ; Christine Klein [Allemagne]	DYT2 Revealed: Hippocalcin Mutations Cause Autosomal-Recessive Isolated Dystonia.
000E03 (2012)	Claire Hinnell ; Salman Haider ; Shane Delamont ; Chris Clough ; Nedim Hadzic ; Michael Samuel	Dystonia in mitochondrial spinocerebellar ataxia and epilepsy syndrome associated with novel recessive POLG mutations.
000F11 (2012)	Evelien Zoons ; Ieke B. Ginjaar ; Paul A D. Bouma ; Johannes A. Carpay ; Marina A J. Tijssen	A new hyperekplexia family with a recessive frameshift mutation in the GLRA1 gene.
001137 (2012)	Claire Hinnell [Royaume-Uni] ; Salman Haider [Royaume-Uni] ; Shane Delamont [Royaume-Uni] ; Chris Clough [Royaume-Uni] ; Nedim Hadzic [Royaume-Uni] ; Michael Samuel [Royaume-Uni]	Dystonia in Mitochondrial Spinocerebellar Ataxia and Epilepsy Syndrome Associated with Novel Recessive POLG Mutations
001232 (2012)	Evelien Zoons [Pays-Bas] ; Ieke B. Ginjaar [Pays-Bas] ; Paul A. D. Bouma [Pays-Bas] ; Johannes A. Carpay [Pays-Bas] ; Marina A. J. Tijssen [Pays-Bas]	A New Hyperekplexia Family with a Recessive Frameshift Mutation in the GLRA1 Gene
001752 (2011)	Thomas Opladen [Allemagne] ; Georg Hoffmann [Allemagne] ; Friederike Hörster [Allemagne] ; Anne-B Rbel Hinz [Allemagne] ; Katharina Neidhardt [Allemagne] ; Christine Klein [Allemagne] ; Nicole Wolf [Pays-Bas]	Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia
002289 (2009)	Ming-Jen Lee [Taïwan] ; Ignacio F. Mata [États-Unis] ; Chin-Hsien Lin [Taïwan] ; Kai-Yuan Tzen [Taïwan] ; Sarah J. Lincoln [États-Unis] ; Rebecca Bounds [États-Unis] ; Paul J. Lockhart [Australie] ; Mary M. Hulihan [États-Unis] ; Matthew J. Farrer [États-Unis] ; Ruey-Meei Wu [Taïwan]	Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism
002378 (2009)	Susanne A. Schneider [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; John Hardy [Royaume-Uni]	Complicated recessive dystonia parkinsonism syndromes
002746 (2008)	Ji-Feng Guo [République populaire de Chine] ; Bin Xiao [République populaire de Chine] ; Bing Liao [République populaire de Chine] ; Xue-Wei Zhang [République populaire de Chine] ; Li-Luo Nie [République populaire de Chine] ; Yu-Hu Zhang [République populaire de Chine] ; Lu Shen [République populaire de Chine] ; Hong Jiang [République populaire de Chine] ; Kun Xia [République populaire de Chine] ; Qian Pan [République populaire de Chine] ; Xin-Xiang Yan [République populaire de Chine] ; Bei-Sha Tang [République populaire de Chine]	Mutation analysis of Parkin, PINK1, DJ‐1 and ATP13A2 genes in Chinese patients with autosomal recessive early‐onset Parkinsonism
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
003054 (2007)	Rob J. Forsyth [Royaume-Uni] ; Artemis D. Gika [Royaume-Uni] ; Ieke Ginjaar [Pays-Bas] ; Marina A. J. Tijssen [Pays-Bas]	A novel GLRA1 mutation in a recessive hyperekplexia pedigree
003221 (2006)	Shin-Ichiro Kubo [Japon] ; Nobutaka Hattori [Japon] ; Yoshikuni Mizuno [Japon]	Recessive Parkinson's disease
003740 (2005)	Kenju Hara [Japon] ; Osamu Onodera [Japon] ; Minoru Endo [Japon] ; Hiroshi Kondo [Japon] ; Hiroshi Shiota [Japon] ; Kenji Miki [Japon] ; Naoyuki Tanimoto [Japon] ; Tetsuya Kimura [Japon] ; Masatoyo Nishizawa [Japon]	Sacsin‐related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan
003765 (2005)	Eliecer Coto [Espagne] ; Daniel Armenta [Espagne] ; Raúl Espinosa [Espagne] ; Joaquín Argente [Espagne] ; M Nica G. Castro [Espagne] ; Victoria Alvarez [Espagne]	Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene
003780 (2005)	Masahiko Suzuki [Japon] ; Nobutaka Hattori [Japon] ; Satoshi Orimo [Japon] ; Nobuyoshi Fukumitsu [Japon] ; Masahiro Abo [Japon] ; Yu Kono [Japon] ; Renpei Sengoku [Japon] ; Akira Kurita [Japon] ; Hidehiko Honda [Japon] ; Kiyoharu Inoue [Japon]	Preserved myocardial [123I]metaiodobenzylguanidine uptake in autosomal recessive juvenile parkinsonism: First case report
003817 (2005)	Chiara Criscuolo [Italie] ; Francesco Saccà [Italie] ; Giuseppe De Michele [Italie] ; Pietro Mancini [Italie] ; Onofre Combarros [Espagne] ; Jon Infante [Espagne] ; Antonio Garcia [Espagne] ; Sandro Banfi [Italie] ; Alessandro Filla [Italie] ; José Berciano [Espagne]	Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia
003872 (2005)	David R. Williams [Royaume-Uni] ; Ali Hadeed [Jordanie] ; Amir S. Najim Al-Din [Royaume-Uni] ; Abdel-Latif Wreikat [Jordanie] ; Andrew Lees (neurologue) [Royaume-Uni]	Kufor Rakeb Disease: Autosomal recessive, levodopa‐responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia
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
003E02 (2004)	Marlene Jimenez Del Rio [Colombie] ; Sonia Moreno [Colombie] ; Gloria Garcia-Ospina [Colombie] ; Omar Buritica [Colombie] ; Carlos S. Uribe [Colombie] ; Francisco Lopera [Colombie] ; Carlos Velez-Pardo [Colombie]	Autosomal recessive juvenile parkinsonism Cys212Tyr mutation in parkin renders lymphocytes susceptible to dopamine‐ and iron‐mediated apoptosis

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