UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management

Nature reviews. Neurology, 2016-07, Vol.12 (7), p.403-412

2016

Volltextzugriff (PDF)

A white paper on a neurodevelopmental framework for drug discovery in autism and other neurodevelopmental disorders

European neuropsychopharmacology, 2021-07, Vol.48, p.49-88

2021

Volltextzugriff (PDF)

The Fragile-X Premutation: A Maturing Perspective

American journal of human genetics, 2004-05, Vol.74 (5), p.805-816

2004

Volltextzugriff (PDF)

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X

Neurology, 2001-07, Vol.57 (1), p.127-130

2001

Volltextzugriff (PDF)

Lessons from fragile X regarding neurobiology, autism, and neurodegeneration

Journal of developmental and behavioral pediatrics, 2006-02, Vol.27 (1), p.63-74

Hagerman, Randi J

2006

Volltextzugriff (PDF)

Protein composition of the intranuclear inclusions of FXTAS

Brain (London, England : 1878), 2006-01, Vol.129 (1), p.256-271

2006

Volltextzugriff (PDF)

Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)

Brain (London, England : 1878), 2006-01, Vol.129 (1), p.243-255

2006

Volltextzugriff (PDF)

Characterising repetitive behaviours in young boys with fragile X syndrome

Journal of intellectual disability research, 2016-01, Vol.60 (1), p.54-67

2016

Volltextzugriff (PDF)

Fragile-X–Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation

American journal of human genetics, 2004-05, Vol.74 (5), p.1051-1056

2004

Volltextzugriff (PDF)

Fragile X syndrome: clinical, cytogenetic and molecular screening among autism spectrum disorder children in Indonesia

Clinical genetics, 2013-12, Vol.84 (6), p.577-580

2013

Volltextzugriff (PDF)

Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates

American journal of human genetics, 2003-04, Vol.72 (4), p.869-878

2003

Volltextzugriff (PDF)

The fragile X premutation: into the phenotypic fold

Current Opinion in Genetics & Development, 2002-06, Vol.12 (3), p.278-283

2002

Volltextzugriff (PDF)

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

JAMA : the journal of the American Medical Association, 2004-01, Vol.291 (4), p.460

2004

Volltextzugriff (PDF)

Elevated Levels of FMR1 mRNA in Carrier Males: A New Mechanism of Involvement in the Fragile-X Syndrome

American journal of human genetics, 2000, Vol.66 (1), p.6-15

2000

Volltextzugriff (PDF)

Modulation of the GABAergic pathway for the treatment of fragile X syndrome

Neuropsychiatric disease and treatment, 2014-01, Vol.10 (default), p.1769-1779

2014

Volltextzugriff (PDF)

Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2005-11, Vol.139B (1), p.115-121

2005

Volltextzugriff (PDF)

Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction

American journal of neuroradiology : AJNR, 2002-11, Vol.23 (10), p.1757-1766

2002

Volltextzugriff (PDF)

Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems

Clinical interventions in aging, 2008-06, Vol.3 (2), p.251-262

2008

Volltextzugriff (PDF)

Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome

Journal of medical genetics, 2004-04, Vol.41 (4), p.e43-e43

2004

Volltextzugriff (PDF)

Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers

Clinical genetics, 2013-07, Vol.84 (1), p.74-77

2013

Volltextzugriff (PDF)

Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer's Disease

Clinical interventions in aging, 2020-02, Vol.15, p.285-292

2020

Volltextzugriff (PDF)

Reduced FMR1 mRNA translation efficiency in Fragile X patients with premutations

RNA (Cambridge), 2002-12, Vol.8 (12), p.1482-1488

2002

Volltextzugriff (PDF)

Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)

Neurology, 2005-07, Vol.65 (2), p.299-301

2005

Volltextzugriff (PDF)

Prevalence of restless legs syndrome and sleep quality in carriers of the fragile X premutation

Clinical genetics, 2014-08, Vol.86 (2), p.181-184

2014

Volltextzugriff (PDF)

Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia

The journal of clinical psychiatry, 2006-01, Vol.67 (1), p.87-94

2006

Volltextzugriff (PDF)

1 – 25 von 150

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(84)
Mit Volltextzugriff
(125)

Publikationsform

Artikel
(133)
Buchkapitel
(16)
Bücher
(1)

Sprache

Englisch
(149)
Spanisch
(1)

Erscheinungsjahr

n.n

Thema

Science & Technology
(127)
Life Sciences & Biomedicine
(126)
Humans
(116)
Male
(89)
Fragile X Syndrome - Genetics
(77)
Female
(65)
Genetics & Heredity
(59)
Biological And Medical Sciences
(55)
Medical Sciences
(55)
Adult
(52)
Child
(46)
Fragile X Syndrome
(45)
Social Sciences
(44)
Adolescent
(43)
Medical Genetics
(38)
Middle Aged
(38)
Fragile X Mental Retardation Protein
(37)
Heterozygote
(35)
Nerve Tissue Proteins - Genetics
(34)
Child, Preschool
(31)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management

A white paper on a neurodevelopmental framework for drug discovery in autism and other neurodevelopmental disorders

The Fragile-X Premutation: A Maturing Perspective

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X

Lessons from fragile X regarding neurobiology, autism, and neurodegeneration

Protein composition of the intranuclear inclusions of FXTAS

Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)

Characterising repetitive behaviours in young boys with fragile X syndrome

Fragile-X–Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation

Fragile X syndrome: clinical, cytogenetic and molecular screening among autism spectrum disorder children in Indonesia

Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates

The fragile X premutation: into the phenotypic fold

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

Elevated Levels of FMR1 mRNA in Carrier Males: A New Mechanism of Involvement in the Fragile-X Syndrome

Modulation of the GABAergic pathway for the treatment of fragile X syndrome

Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation

Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction

Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems

Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome

Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers

Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer's Disease

Reduced FMR1 mRNA translation efficiency in Fragile X patients with premutations

Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)

Prevalence of restless legs syndrome and sleep quality in carriers of the fragile X premutation

Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia

Suchergebnisse filtern