Chromosome Deletion < Chromosome Disorders < Chromosome Mapping

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 39.
[0-20] [0 - 20][0 - 39][20-38][20-40]

Ident.	Authors (with country if any)	Title
000115 (1999)	H R Morris [Royaume-Uni] ; A J Lees ; N W Wood	Neurofibrillary tangle parkinsonian disorders--tau pathology and tau genetics.
000126 (1999)	E. Cassetta [Italie] ; N. Del Grosso ; A R Bentivoglio ; E M Valente ; M. Frontali ; A. Albanese	Italian family with cranial cervical dystonia: clinical and genetic study.
000226 (2000)	A. Schrag [Royaume-Uni] ; N P Quinn ; K P Bhatia ; C D Marsden	Benign hereditary chorea--entity or syndrome?
000285 (2000)	J J Higgins [États-Unis] ; K. Kluetzman ; J. Berciano ; O. Combarros ; J M Loveless	Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder.
000296 (2000)	T. Klockgether [Allemagne] ; U. Wüllner ; A. Spauschus ; B. Evert	The molecular biology of the autosomal-dominant cerebellar ataxias.
000551 (2001)	T. Perniola [Italie] ; L. Margari ; M G De Iaco ; A. Presicci ; P. Ventura ; E. Ferrannini ; G. Illiceto	Familial paroxysmal exercise-induced dyskinesia, epilepsy, and mental retardation in a family with autosomal dominant inheritance.
001007 (2005)	Pablo Mir [Royaume-Uni] ; Mark J. Edwards ; Andrew R J. Curtis ; Kailash P. Bhatia ; Niall P. Quinn	Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene.
001071 (2005)	Kenju Hara [Japon] ; Osamu Onodera ; Minoru Endo ; Hiroshi Kondo ; Hiroshi Shiota ; Kenji Miki ; Naoyuki Tanimoto ; Tetsuya Kimura ; Masatoyo Nishizawa	Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan.
001325 (2005)	Chiara Criscuolo [Italie] ; Francesco Saccà ; Giuseppe De Michele ; Pietro Mancini ; Onofre Combarros ; Jon Infante ; Antonio Garcia ; Sandro Banfi ; Alessandro Filla ; José Berciano	Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.
001452 (1992)	R N Rosenberg	Machado-Joseph disease: an autosomal dominant motor system degeneration.
001453 (1992)	L. Sudarsky [États-Unis] ; L. Corwin ; D M Dawson	Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies.
001862 (2006)	Christina Sobin [États-Unis] ; Samantha H. Monk [États-Unis] ; Karen Kiley-Brabeck [États-Unis] ; Jananne Khuri [États-Unis] ; Maria Karayiorgou [États-Unis]	Neuromotor Deficits in Children With the 22q11 Deletion Syndrome
003095 (2011)	Markus C. Kowarik ; Sabine Langer ; Corinna Keri ; Bernhard Hemmer ; Konrad Oexle ; Juliane Winkelmann	Myoclonus-dystonia in 18p deletion syndrome.
004702 (1995)	A. Ishikawa [Japon] ; T. Miyatake	A family with hereditary juvenile dystonia-parkinsonism.
004709 (1995)	S. Bohlega [Arabie saoudite] ; B. Stigsby ; M Z Al-Kawi ; D R Mclean ; P. Ozand ; S. Omer ; P. Coates	Familial tremulous and myoclonic dystonia with white matter changes in brain magnetic resonance imaging.
004846 (1994)	T T Warner [Royaume-Uni] ; G G Lennox ; I. Janota ; A E Harding	Autosomal-dominant dentatorubropallidoluysian atrophy in the United Kingdom.
004896 (1994)	S. Micheli [Argentine] ; M. Fernández-Pardal ; P. Quesada ; T. Brannan ; J A Obeso	Variable onset of adult inherited focal dystonia: a problem for genetic studies.
004937 (1993)	R J Uitti [États-Unis] ; D M Maraganore	Adult onset familial cervical dystonia: report of a family including monozygotic twins.
004970 (1993)	D. Conway [Royaume-Uni] ; P G Bain ; T T Warner ; M B Davis ; L J Findley ; P D Thompson ; C D Marsden ; A E Harding	Linkage analysis with chromosome 9 markers in hereditary essential tremor.
004A70 (1996)	N P Quinn [Royaume-Uni]	Essential myoclonus and myoclonic dystonia.
004A76 (1996)	T. Gasser [États-Unis] ; C M Bove ; L J Ozelius ; M. Hallett ; M E Charness ; F H Hochberg ; X O Breakefield	Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia.

---

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 "Chromosome Disorders" 

HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/Mesh.i  \
                -Sk "Chromosome Disorders" \
         | 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=    Chromosome Disorders
}}

---

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