Freezing Reaction, Cataleptic < Friedreich Ataxia < Frontal Lobe

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 45.
[0-20] [0 - 20][0 - 45][20-40]

Ident.	Authors (with country if any)	Title
000228 (2000)	B M Ross [Canada] ; K. Eder ; A. Moszczynska ; N. Mamalias ; J. Lamarche ; L. Ang ; M. Pandolfo ; G. Rouleau ; M. Kirchgessner ; S J Kish	Abnormal activity of membrane phospholipid synthetic enzymes in the brain of patients with Friedreich's ataxia and spinocerebellar atrophy type-1.
000402 (2000)	A. Filla [Italie] ; G. De Michele ; G. Coppola ; A. Federico ; G. Vita ; A. Toscano ; A. Uncini ; P. Pisanelli ; P. Barone ; V. Scarano ; A. Perretti ; L. Santoro ; A. Monticelli ; F. Cavalcanti ; G. Caruso ; S. Cocozza	Accuracy of clinical diagnostic criteria for Friedreich's ataxia.
000420 (2000)	G M Wali [Inde]	Friedreich ataxia associated with dystonic head tremor provoked by prolonged exercise.
000577 (2001)	M. Pandolfo [Canada]	Molecular basis of Friedreich ataxia.
000628 (2001)	D O Mcdaniel [États-Unis] ; B. Keats ; V V Vedanarayanan ; S H Subramony	Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia.
000804 (2002)	Danqing Zhu [Australie] ; Christopher Burke ; Anthony Leslie ; Garth A. Nicholson	Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion.
000D31 (2004)	Elsdon Storey [Australie] ; Kate Tuck ; Robert Hester ; Andrew Hughes ; Andrew Churchyard	Inter-rater reliability of the International Cooperative Ataxia Rating Scale (ICARS).
001076 (2004)	Amanpreet Badhwar [Canada] ; An Jansen ; Frederick Andermann ; Massimo Pandolfo ; Eva Andermann	Striking intrafamilial phenotypic variability and spastic paraplegia in the presence of similar homozygous expansions of the FRDA1 gene.
001185 (2005)	David R. Lynch [États-Unis] ; Jennifer M. Farmer ; Robert L. Wilson ; Laura J. Balcer	Performance measures in Friedreich ataxia: potential utility as clinical outcome tools.
001199 (2005)	Djamel Ben Smail [France] ; Claire Jacq ; Pierre Denys ; Bernard Bussel	Intrathecal baclofen in the treatment of painful, disabling spasms in Friedreich's ataxia.
001370 (2005)	Niall P. Quinn [Royaume-Uni]	How to diagnose multiple system atrophy.
001392 (2005)	José Berciano [Espagne] ; Jon Infante ; Antonio García ; José Miguel Polo ; Victor Volpini ; Onofre Combarros	Very late-onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type.
001406 (2005)	Stefan J. Cano [Royaume-Uni] ; Jeremy C. Hobart ; Paul E. Hart ; L V Prasad Korlipara ; Anthony H V. Schapira ; J Mark Cooper	International Cooperative Ataxia Rating Scale (ICARS): appropriate for studies of Friedreich's ataxia?
001721 (2006)	Afsane Riazi [Royaume-Uni] ; Stefan J. Cano ; J Mark Cooper ; Jane L. Bradley ; Anthony H V. Schapira ; Jeremy C. Hobart	Coordinating outcomes measurement in ataxia research: do some widely used generic rating scales tick the boxes?
001C82 (2007)	Chris Meyer [Allemagne] ; Gebhard Schmid ; Sabine Görlitz ; Monika Ernst ; Christian Wilkens ; Inga Wilhelms ; Peter H. Kraus ; Peter Bauer ; Jürgen Tomiuk ; Horst Przuntek ; Andreas Mügge ; Ludger Schöls	Cardiomyopathy in Friedreich's ataxia-assessment by cardiac MRI.
002021 (2008)	Edward J. Wild [Royaume-Uni] ; Ese E. Mudanohwo ; Mary G. Sweeney ; Susanne A. Schneider ; Jon Beck ; Kailash P. Bhatia ; Martin N. Rossor ; Mary B. Davis ; Sarah J. Tabrizi	Huntington's disease phenocopies are clinically and genetically heterogeneous.
002074 (2008)	Aekaterini Galimanis ; Louis Glutz ; Roland Spiegel ; Jean-Marc Burgunder ; Alain Kaelin-Lang	Very-late-onset Friedreich ataxia with disturbing head tremor and without spinal atrophy--a case report.
002131 (2008)	Catherine A. Stolle [États-Unis] ; Edward C. Frackelton ; Jennifer Mccallum ; Jennifer M. Farmer ; Amy Tsou ; Robert B. Wilson ; David R. Lynch	Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.
002246 (2008)	Lauren M. Myers [États-Unis] ; David R. Lynch ; Jennifer M. Farmer ; Lisa S. Friedman ; John A. Lawson ; Robert B. Wilson	Urinary isoprostanes in Friedreich ataxia: lack of correlation with disease features.
002284 (2008)	Sylvia Boesch [Autriche] ; Brigitte Sturm ; Sascha Hering ; Barbara Scheiber-Mojdehkar ; Hannes Steinkellner ; Hans Goldenberg ; Werner Poewe [Autriche]	Neurological effects of recombinant human erythropoietin in Friedreich's ataxia: a clinical pilot trial.
002285 (2008)	Alison La Pean [États-Unis] ; Neal Jeffries [États-Unis] ; Chelsea Grow [États-Unis] ; Bernard Ravina [États-Unis] ; Nicholas A. Di Prospero [États-Unis]	Predictors of progression in patients with Friedreich ataxia

---

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Checkpoint

HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/Mesh.i -k "Friedreich Ataxia" 

HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/Mesh.i  \
                -Sk "Friedreich Ataxia" \
         | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd 

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Ncbi
   |étape=   Checkpoint
   |type=    indexItem
   |index=    Mesh.i
   |clé=    Friedreich Ataxia
}}

---

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