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La ricerca find articoli where soggetti phrase all words 'torsion dystonia' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 165 riferimenti
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    1. Gasser, T; Dichgans, M; Finsterer, J; Hausmanowa-Petrusewicz, I; Jurkat-Rott, K; Klopstock, T; LeGuern, E; Lehesjoki, AE; Lehmann-Horn, F; Lynch, T; Morris, H; Rossor, M; Steinlein, OK; Wood, N; Zaremba, J; Zeviani, M; Zoharn, A
      EFNS task force on molecular diagnosis of neurologic disorders - Guidelines for the molecular diagnosis of inherited neurologic diseases - First of two parts

      EUROPEAN JOURNAL OF NEUROLOGY
    2. Misbahuddin, A; Warner, TT
      Dystonia: an update on genetics and treatment

      CURRENT OPINION IN NEUROLOGY
    3. Zimprich, A; Grabowski, M; Asmus, F; Naumann, M; Berg, D; Bertram, M; Scheidtmann, K; Kern, P; Winkelmann, F; Muller-Myhsok, B; Riedel, L; Bauer, M; Muller, T; Castro, M; Meitinger, T; Strom, TM; Gasser, T
      Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

      NATURE GENETICS
    4. Wunderlich, S; Reiners, K; Gasser, T; Naumann, M
      Cervical dystonia in monozygotic twins: Case report and review of the literature

      MOVEMENT DISORDERS
    5. Muta, D; Goto, S; Nishikawa, S; Hamasaki, T; Ushio, Y; Inoue, N; Mita, S
      Bilateral pallidal stimulation for idiopathic segmented axial dystonia advanced from Meige syndrome refractory to bilateral thalamotomy

      MOVEMENT DISORDERS
    6. Jedynak, PC; Tranchant, C; de Beyl, DZ
      Prospective clinical study of writer's cramp

      MOVEMENT DISORDERS
    7. Jankovic, J
      Can peripheral trauma induce dystonia and other movement disorders? Yes!

      MOVEMENT DISORDERS
    8. Penarrocha, M; Sanchis, JM; Rambla, J; Guarinos, J
      Oral rehabilitation using osseointegrated implants in a patient with idiopathic torsion dystonia

      INTERNATIONAL JOURNAL OF ORAL & MAXILLOFACIAL IMPLANTS
    9. Penarrocha, M; Sanchis, JM; Rambla, J; Sanchez, MA
      Oval rehabilitation with osseointegrated implants in a patient with oromandibular dystonia with blepharospasm (Brueghel's syndrome): A patient history

      INTERNATIONAL JOURNAL OF ORAL & MAXILLOFACIAL IMPLANTS
    10. Friedman, J; Standaert, DG
      Dystonia and its disorders

      NEUROLOGIC CLINICS
    11. Fricka, KB; Kim, C; Newton, PO
      Spinal lordosis with marked opisthotonus secondary to dystonia musculorum deformans - Case report with surgical management

      SPINE
    12. Sessa, M; Galardi, G; Agazzi, E; Casari, G
      Sporadic idiopathic cervical dystonia: exclusion of the DYT1 deletion

      JOURNAL OF NEUROLOGY
    13. Major, T; Svetel, M; Romac, S; Kostic, VS
      DYT1 mutation in primary torsion dystonia in a Serbian population

      JOURNAL OF NEUROLOGY
    14. Preibisch, C; Berg, D; Hofmann, E; Solymosi, L; Naumann, M
      Cerebral activation patterns in patients with writer's cramp: a functionalmagnetic resonance imaging study

      JOURNAL OF NEUROLOGY
    15. Hummel, SM; Lucking, CH
      Post-traumatic dystonia. A review and legal aspects

      NERVENARZT
    16. Munchau, A; Bronstein, AM
      Role of the vestibular system in the pathophysiology of spasmodic torticollis

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    17. Placzek, MR; Misbahuddin, A; Chaudhuri, KR; Wood, NW; Bhatia, KP; Warner, TT
      Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    18. Jahanshahi, M; Rowe, J; Fuller, R
      Impairment of movement initiation and execution but not preparation in idiopathic dystonia

      EXPERIMENTAL BRAIN RESEARCH
    19. Velickovic, M; Benabou, R; Brin, MF
      Cervical dystonia - Pathophysiology and treatment options

      DRUGS
    20. Durst, R; Colombo, R; Shpitzen, S; Ben Avi, L; Friedlander, Y; Wexler, R; Raal, FJ; Marais, DA; Defesche, JC; Mandelshtam, MY; Kotze, MJ; Leitersdorf, E; Meiner, V
      Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: Positive selection is not always necessary to account for disease incidence among Ashkenazi Jews

      AMERICAN JOURNAL OF HUMAN GENETICS
    21. Mazarib, A; Simon, ES; Korczyn, AD; Falik-Zaccai, Z; Gazit, E; Giladi, N
      Hereditary juvenile-onset craniocervical predominant generalized dystonia with parkinsonism

      ISRAEL MEDICAL ASSOCIATION JOURNAL
    22. Yoneda, Y; Rome, S; Sagar, HJ; Grunewald, RA
      Abnormal perception of the tonic vibration reflex in idiopathic focal dystonia

      EUROPEAN JOURNAL OF NEUROLOGY
    23. Mubaidin, AF
      Alcohol with xylocaine for treatment of eyelid dystonia

      EUROPEAN JOURNAL OF NEUROLOGY
    24. Kono, M; Miyamura, Y; Matsunaga, J; Tomita, Y
      Exclusion of linkage between dyschromatosis symmetrica hereditaria and chromosome 9

      JOURNAL OF DERMATOLOGICAL SCIENCE
    25. Kamm, C; Naumann, M; Mueller, J; Mai, N; Riedel, L; Wissel, J; Gasser, T
      The DYT1 GAG deletion is infrequent in sporadic and familial writer's cramp

      MOVEMENT DISORDERS
    26. Munchau, A; Valente, EM; Davis, MB; Stinton, V; Wood, NW; Quinn, NP; Bhatia, KP
      A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia

      MOVEMENT DISORDERS
    27. Curra, A; Berardelli, A; Agostino, R; Giovannelli, M; Koch, G; Manfredi, F
      Movement cueing and motor execution in patients with dystonia: A kinematicstudy

      MOVEMENT DISORDERS
    28. Nomura, Y; Ikeuchi, T; Tsuji, S; Segawa, M
      Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia (DYT1) - pathophysiological consideration

      BRAIN & DEVELOPMENT
    29. Bressman, SB
      Dystonia update

      CLINICAL NEUROPHARMACOLOGY
    30. Warner, T; Camfield, L; Marsden, CD; Nemeth, AH; Hyman, N; Harley, D; Wissel, J; Poewe, W; Marttila, RJ; Erjanti, H; Burbaud, P; Lagueny, A; Kamm, C; Gasser, T; Franz, D; Castelon-Konkiewitz, E; Trender, I; Ceballos-Baumann, A; Nebe, A; Freudenberg, B; Bentivoglio, A; Cassetta, E; Albanese, A; Curra, A; Vacca, L; Berardelli, A; Ferreira, J; Sampaio, C; Passao, V; Marti, F; Tolosa, E; Claveria, L; Duarte, J; Ben-Shlomo, Y; Newton, A
      A prevalence study of primary dystonia in eight European countries

      JOURNAL OF NEUROLOGY
    31. Hashimoto, T
      Neuronal activity in the globus pallidus in primary dystonia and off-period dystonia

      JOURNAL OF NEUROLOGY
    32. Roubertie, A; Echenne, B; Cif, L; Vayssiere, N; Hemm, S; Coubes, P
      Treatment of early-onset dystonia: update and a new perspective

      CHILDS NERVOUS SYSTEM
    33. Schwarz, S; Henningsen, P; Meinck, HM
      Dystonia following peripheral trauma: clinical findings and diagnostic criteria

      UNFALLCHIRURG
    34. Villavicencio, AT; Friedman, AH
      Surgery for spasmodic torticollis

      MOVEMENT DISORDER SURGERY
    35. Illarioshkin, SN; Markova, ED; Miklina, NI; Ivanova-Smolenskaya, IA
      Molecular genetics of the hereditary dystonic syndromes

      ZHURNAL NEVROPATOLOGII I PSIKHIATRII IMENI S S KORSAKOVA
    36. Tranchant, C
      Focal dystonia: clinical, etiologic and therapeutic aspects.

      REVUE NEUROLOGIQUE
    37. Gibbs, SR; Blitzer, A
      Botulinum toxin for the treatment of spasmodic dysphonia

      OTOLARYNGOLOGIC CLINICS OF NORTH AMERICA
    38. Hutchinson, M; Nakamura, T; Moeller, JR; Antonini, A; Belakhlef, A; Dhawan, V; Eidelberg, D
      The metabolic topography of essential blepharospasm - A focal dystonia with general implications

      NEUROLOGY
    39. Stacy, M
      Idiopathic cervical dystonia: An overview

      NEUROLOGY
    40. Adler, CH; Kumar, R
      Pharmacological and surgical options for the treatment of cervical dystonia

      NEUROLOGY
    41. Lichter, DG; Lang, AE
      To test or not to test? That is the question (with a twist)

      NEUROLOGY
    42. Bressman, SB; Sabatti, C; Raymond, D; de Leon, D; Klein, C; Kramer, PL; Brin, MF; Fahn, S; Breakefield, X; Ozelius, LJ; Risch, NJ
      The DYT1 phenotype and guidelines for diagnostic testing

      NEUROLOGY
    43. Furukawa, Y; Hornykiewicz, O; Fahn, S; Kish, SJ
      Striatal dopamine in early-onset primary torsion dystonia with the DYT1 mutation

      NEUROLOGY
    44. Findley, LJ
      Epidemiology and genetics of essential tremor

      NEUROLOGY
    45. Curra, A; Romaniello, A; Berardelli, A; Cruccu, G; Manfredi, M
      Shortened cortical silent period in facial muscles of patients with cranial dystonia

      NEUROLOGY
    46. Klein, C; Kann, M; Kis, B; Pramstaller, PP; Breakefield, XO; Ozelius, LJ; Vieregge, P
      The genetics of dystonia

      NERVENARZT
    47. Shashidharan, P; Good, PF; Hsu, A; Perl, DP; Brin, MF; Olanow, CW
      TorsinA accumulation in Lewy bodies in sporadic Parkinson's disease

      BRAIN RESEARCH
    48. Benecke, R
      Pathophysiological mechanisms of dystonias

      KLINISCHE NEUROPHYSIOLOGIE
    49. Saunders-Pullman, R; Braun, I; Bressman, S
      Pediatric movement disorders

      CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
    50. Thyagarajan, D
      Dystonia: recent advances

      JOURNAL OF CLINICAL NEUROSCIENCE
    51. Banfi, S; Bassi, MT; Andolfi, G; Marchitiello, A; Zanotta, S; Ballabio, A; Casari, G; Franco, B
      Identification and characterization of AFG3L2, a novel paraplegin-related gene

      GENOMICS
    52. Gernert, M; Richter, A; Loscher, W
      Subconvulsive dose of pentylenetetrazole increases the firing rate of substantia nigra pars reticulata neurons in dystonic but not in nondystonic hamsters

      SYNAPSE
    53. Sieberer, MG; Vieregge, P; Klein, C; Ozelius, LJ; Wandinger, KP
      Concordant late onset of craniocervical dystonia in a pair of monozygotic twins

      MOVEMENT DISORDERS
    54. Cassetta, E; Del Grosso, N; Bentivoglio, AR; Valente, EM; Frontali, M; Albanese, A
      Italian family with cranial cervical dystonia: Clinical and genetic study

      MOVEMENT DISORDERS
    55. Nemeth, AH; Mills, KR; Elston, JS; Williams, A; Dunne, E; Hyman, NM
      Do the same genes predispose to Gilles de la Tourette Syndrome and dystonia? Report of a new family and review of the literature

      MOVEMENT DISORDERS
    56. Destee, A; Brique, S; Sablonniere, B
      Dystonias: Hereditary dystonias

      PRESSE MEDICALE
    57. Kramer, PL; Mineta, M; Klein, C; Schilling, K; de Leon, D; Farlow, MR; Breakefield, XO; Bressman, SB; Dobyns, WB; Ozelius, LJ; Brashear, A
      Rapid-onset dystonia-parkinsonism: Linkage to chromosome 19q13

      ANNALS OF NEUROLOGY
    58. Klein, C; Breakefield, XO; Ozelius, LJ
      Genetics of primary dystonia

      SEMINARS IN NEUROLOGY
    59. Rome, S; Grunewald, RA
      Abnormal perception of vibration-induced illusion of movement in dystonia

      NEUROLOGY
    60. Steinberger, D; Topka, H; Fischer, D; Muller, U
      GCH1 mutation in a patient with adult-onset oromandibular dystonia

      NEUROLOGY
    61. Coubes, P; Echenne, B; Roubertie, A; Vayssiere, N; Tuffery, S; Humbertclaude, V; Cambonie, G; Claustres, M; Frerebeau, P
      Treatment of early-onset generalized dystonia by bilateral chronic electrical stimulation of the internal globus pallidus. Case report.

      NEUROCHIRURGIE
    62. Limborska, SA
      Human molecular genetics: Medical-genetic and population studies

      MOLECULAR BIOLOGY
    63. Defazio, G; Berardelli, A; Abbruzzese, G; Coviello, V; Carella, F; De Berardinis, MT; Galardi, G; Girlanda, P; Maurri, S; Mucchiut, M; Albanese, A; Basciani, M; Bertolasi, L; Liguori, R; Tambasco, N; Santoro, L; Assennato, G; Livrea, P
      Risk factors for spread of primary adult onset blepharospasm: a multicentre investigation of the Italian movement disorders study group

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    64. Jarman, PR; del Grosso, N; Valente, EM; Leube, B; Cassetta, E; Bentivoglio, AR; Waddy, HM; Uitti, RJ; Maraganore, DM; Albanese, A; Frontali, M; Auburger, G; Bressman, SB; Wood, NW; Nygaard, TG
      Primary torsion dystonia: the search for genes is not over

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    65. Lebre, AS; Durr, A; Jedynak, P; Ponsot, G; Vidailhet, M; Agid, Y; Brice, A
      DYT1 mutation in French families with idiopathic torsion dystonia

      BRAIN
    66. Adityanjee; Aderibigbe, YA; Jampala, VC; Mathews, T
      The current status of tardive dystonia

      BIOLOGICAL PSYCHIATRY
    67. Valente, EM; Povey, S; Warner, TT; Wood, NW; Davis, MB
      Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations

      ANNALS OF HUMAN GENETICS
    68. Geschwind, DH; Loginov, M; Stern, JM
      Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease)

      AMERICAN JOURNAL OF HUMAN GENETICS
    69. Blumenfeld, A; Slaugenhaupt, SA; Liebert, CB; Temper, V; Maayan, C; Gill, S; Lucente, DE; Idelson, M; MacCormack, K; Monahan, MA; Mull, J; Leyne, M; Mendillo, M; Schiripo, T; Mishori, E; Breakefield, X; Axelrod, FB; Gusella, JF
      Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31

      AMERICAN JOURNAL OF HUMAN GENETICS
    70. Leube, B; Kessler, KR; Ferbert, A; Ebke, M; Schwendemann, G; Erbguth, F; Benecke, R; Auburger, G
      Phenotypic variability of the DYT1 mutation in German dystonia patients

      ACTA NEUROLOGICA SCANDINAVICA
    71. Rondot, P; Wevers, RA
      Recessive Dopa-responsive dystonia due to mutation of the Tyrosine-hydroxylase gene

      BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE
    72. BRESSMAN SB
      DYSTONIA

      Current opinion in neurology
    73. BROOKS DJ
      POSITRON-EMISSION-TOMOGRAPHY STUDIES IN MOVEMENT-DISORDERS

      Neurosurgery clinics of North America
    74. KLEIN C; BRIN MF; DELEON D; LIMBORSKA SA; IVANOVASMOLENSKAYA IA; BRESSMAN SB; FRIEDMAN A; MARKOVA ED; RISCH NJ; BREAKEFIELD XO; OZELIUS LJ
      DE-NOVO MUTATIONS (GAG DELETION) IN THE DYT1 GENE IN 2 NON-JEWISH PATIENTS WITH EARLY-ONSET DYSTONIA

      Human molecular genetics (Print)
    75. ODERGREN T; STONEELANDER S; INGVAR M
      CEREBRAL AND CEREBELLAR ACTIVATION IN CORRELATION TO THE ACTION-INDUCED DYSTONIA IN WRITERS CRAMP

      Movement disorders
    76. HAYES MW; OUVRIER RA; EVANS W; SOMERVILLE E; MORRIS JGL
      X-LINKED DYSTONIA-DEAFNESS SYNDROME

      Movement disorders
    77. PLAYFORD ED; PASSINGHAM RE; MARSDEN CD; BROOKS DJ
      INCREASED ACTIVATION OF FRONTAL AREAS DURING ARM MOVEMENT IN IDIOPATHIC TORSION DYSTONIA

      Movement disorders
    78. RONA S; BERARDELLI A; VACCA L; INGHILLERI M; MANFREDI M
      ALTERATIONS OF MOTOR CORTICAL INHIBITION IN PATIENTS WITH DYSTONIA

      Movement disorders
    79. BRIN MF; KOLLER W
      EPIDEMIOLOGY AND GENETICS OF ESSENTIAL TREMOR

      Movement disorders
    80. BIRD TD
      PENETRATING OBSERVATIONS OF DYSTONIA

      Annals of neurology
    81. EIDELBERG D; MOELLER JR; ANTONINI A; KAZUMATA K; NAKAMURA T; DHAWAN V; SPETSIERIS P; DELEON D; BRESSMAN SB; FAHN S
      FUNCTIONAL BRAIN NETWORKS IN DYT1 DYSTONIA

      Annals of neurology
    82. KLEIN C; PRAMSTALLER PP; CASTELLAN CC; BREAKEFIELD XO; KRAMER PL; OZELIUS LJ
      CLINICAL AND GENETIC EVALUATION OF A FAMILY WITH A MIXED DYSTONIA PHENOTYPE FROM SOUTH TYROL

      Annals of neurology
    83. TABRIZI SJ; COOPER JM; SCHAPIRA AHV
      MITOCHONDRIAL-DNA IN FOCAL DYSTONIA - A CYBRID ANALYSIS

      Annals of neurology
    84. KORF BR
      THE HEREDITARY DYSTONIAS - AN EMERGING STORY WITH A TWIST

      Annals of neurology
    85. GASSER T; WINDGASSEN K; BEREZNAI B; KABUS C; LUDOLPH AC
      PHENOTYPIC-EXPRESSION OF THE DYT1 MUTATION - A FAMILY WITH WRITERS CRAMP OF JUVENILE-ONSET

      Annals of neurology
    86. RASKIND WH; BOLIN T; WOLFF J; FINK J; MATSUSHITA M; LITT M; LIPE H; BIRD TD
      FURTHER LOCALIZATION OF A GENE FOR PAROXYSMAL DYSTONIC CHOREOATHETOSIS TO A 5-CM REGION ON CHROMOSOME 2Q34

      Human genetics
    87. Deuschl, G; Hallett, M
      Focal dystonias: From occupational cramp to sensomotor disease that can betreated

      AKTUELLE NEUROLOGIE
    88. RICHTER A; LOSCHER W
      PATHOPHYSIOLOGY OF IDIOPATHIC DYSTONIA - FINDINGS FROM GENETIC ANIMAL-MODELS

      Progress in neurobiology
    89. Brice, A
      Genetics of extrapyramidal diseases

      REVUE NEUROLOGIQUE
    90. BLITZER A; BRIN MF; STEWART CF
      BOTULINUM TOXIN MANAGEMENT OF SPASMODIC DYSPHONIA (LARYNGEAL DYSTONIA) - A 12-YEAR EXPERIENCE IN MORE THAN 900 PATIENTS

      The Laryngoscope
    91. WARNER TT; JARMAN P
      THE MOLECULAR-GENETICS OF THE DYSTONIAS

      Journal of Neurology, Neurosurgery and Psychiatry
    92. JARMAN PR; WARNER TT
      THE DYSTONIAS

      Journal of Medical Genetics
    93. BERARDELLI A; ROTHWELL JC; HALLETT M; THOMPSON PD; MANFREDI M; MARSDEN CD
      THE PATHOPHYSIOLOGY OF PRIMARY DYSTONIA

      Brain (Print)
    94. DAUER WT; BURKE RE; GREENE P; FAHN S
      CURRENT CONCEPTS ON THE CLINICAL-FEATURES, ETIOLOGY AND MANAGEMENT OFIDIOPATHIC CERVICAL DYSTONIA

      Brain
    95. Valente, EM; Warner, TT; Jarman, PR; Mathen, D; Fletcher, NA; Marsden, CD; Bhatia, KP; Wood, NW
      The role of DYT1 in primary torsion dystonia in Europe

      BRAIN
    96. Kiriakakis, V; Bhatia, KP; Quinn, NP; Marsden, CD
      The natural history of tardive dystonia - A long-term follow-up study of 107 cases

      BRAIN
    97. Klein, C; Ozelius, LJ; Hagenah, J; Breakefield, XO; Risch, NJ; Vieregge, P
      Search for a founder mutation in idiopathic focal dystonia from northern Germany

      AMERICAN JOURNAL OF HUMAN GENETICS
    98. GASSER T
      IDIOPATHIC, MYOCLONIC AND DOPA-RESPONSIVE DYSTONIA

      Current opinion in neurology
    99. KLOSTERMANN W; VIEREGGE P; KOMPF D
      APRAXIA OF EYELID OPENING AFTER BILATERAL STEREOTAXIC SUBTHALAMOTOMY

      Journal of neuro-ophthalmology
    100. LEUBE B; KESSLER KR; GOECKE T; AUBURGER G; BENECKE R
      FREQUENCY OF FAMILIAL INHERITANCE AMONG 488 INDEX PATIENTS WITH IDIOPATHIC FOCAL DYSTONIA AND CLINICAL VARIABILITY IN A LARGE FAMILY

      Movement disorders


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Documento generato il 21/10/20 alle ore 16:13:37