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...

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

Journal of neurology, neurosurgery and psychiatry, 2012-07, Vol.83 (7), p.706-710

2012

Volltextzugriff (PDF)

Novel phenotype of SIN3A-related disorder diagnosed in adulthood with multi-system involvement

European journal of human genetics : EJHG, 2024-03, Vol.32 (3), p.257-259

2024

Volltextzugriff (PDF)

Unintended effects of orphan product designation for rare neurological diseases

Annals of neurology, 2012-10, Vol.72 (4), p.481-490

2012

Volltextzugriff (PDF)

POLR3A-related disorders: expanding the clinical phenotype

Journal of neurology, 2024-06, Vol.271 (6), p.3635-3638

2024

Volltextzugriff (PDF)

Health-Related Quality of Life in Patients with Inherited Ataxia in Ireland

Cerebellum (London, England), 2024-08, Vol.23 (4), p.1328-1337

2024

Volltextzugriff (PDF)

Mutation in FAM134B causing severe hereditary sensory neuropathy

Journal of neurology, neurosurgery and psychiatry, 2012-01, Vol.83 (1), p.119-120

2012

Volltextzugriff (PDF)

Headache in the neurology clinic: a 2-year audit

Irish journal of medical science, 2021-08, Vol.190 (3), p.1143-1148

2021

Volltextzugriff (PDF)

The impact of headache disorders: a prospective analysis of headache referrals to outpatient and inpatient neurology and emergency services in an Irish University teaching hospital

Irish journal of medical science, 2024-02, Vol.193 (1), p.397-405

2024

Volltextzugriff (PDF)

Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic

Cerebellum (London, England), 2021-02, Vol.20 (1), p.54-61

2021

Volltextzugriff (PDF)

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2

Neurology, 2013-06, Vol.80 (23), p.2106-2111

2013

Volltextzugriff (PDF)

Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort

Journal of neurology, 2021-10, Vol.268 (10), p.3897-3907

2021

Volltextzugriff (PDF)

The Cost of Living with Inherited Ataxia in Ireland

Cerebellum (London, England), 2022-04, Vol.21 (2), p.280-296

2022

Volltextzugriff (PDF)

DNMT1-associated sensory neuropathy and cerebellar ataxia: A novel variant and review of genotype-phenotype correlation

Journal of the peripheral nervous system, 2023-09, Vol.28 (3), p.508-512

2023

Volltextzugriff (PDF)

Phenotype expression in women with CMT1X

Journal of the peripheral nervous system, 2011-06, Vol.16 (2), p.102-107

2011

Volltextzugriff (PDF)

Expanding the phenotype of SLC12A6 -associated sensorimotor neuropathy

BMJ case reports, 2021-10, Vol.14 (10), p.e244641

2021

Volltextzugriff (PDF)

Clinical spectrum of AIFM1‐associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness

Journal of the peripheral nervous system, 2019-12, Vol.24 (4), p.348-353

2019

Volltextzugriff (PDF)

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

Neurology, 2012-09, Vol.79 (11), p.1145-1154

2012

Volltextzugriff (PDF)

Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity

Neuromolecular medicine, 2015-03, Vol.17 (1), p.47-57

2015

Volltextzugriff (PDF)

Scleromyxoedema, blistering lesions and progressive sensorimotor neuropathy in Waldenström’s macroglobulinaemia

Practical neurology, 2021-04, Vol.21 (2), p.164-166

2021

Volltextzugriff (PDF)

X inactivation in females with X-linked Charcot–Marie–Tooth disease

Neuromuscular disorders : NMD, 2012-07, Vol.22 (7), p.617-621

2012

Volltextzugriff (PDF)

Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation

Neuromuscular disorders : NMD, 2011-03, Vol.21 (3), p.223-226

2011

Volltextzugriff (PDF)

Anti Ma2-associated myeloradiculopathy: expanding the phenotype of anti-Ma2 associated paraneoplastic syndromes

Journal of neurology, neurosurgery and psychiatry, 2012-02, Vol.83 (2), p.232-233

2012

Volltextzugriff (PDF)

The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits

Journal of neurology, neurosurgery and psychiatry, 2013-01, Vol.84 (1), p.114-116

2013

Volltextzugriff (PDF)

Charcot-Marie-Tooth disease

Journal of the peripheral nervous system, 2011-03, Vol.16 (1), p.1-14

2011

Volltextzugriff (PDF)

SCN9A-associated congenital insensitivity to pain and anosmia in an Irish patient

Journal of the peripheral nervous system, 2015-06, Vol.20 (2), p.86-87

2015

Volltextzugriff (PDF)

1 – 25 von 194

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(179)
Mit Volltextzugriff
(164)

Publikationsform

Sprache

Englisch
(194)
Japanisch
(22)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(3)

Menü

Weitere Dienste

Einstellungen

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

Novel phenotype of SIN3A-related disorder diagnosed in adulthood with multi-system involvement

Unintended effects of orphan product designation for rare neurological diseases

POLR3A-related disorders: expanding the clinical phenotype

Health-Related Quality of Life in Patients with Inherited Ataxia in Ireland

Mutation in FAM134B causing severe hereditary sensory neuropathy

Headache in the neurology clinic: a 2-year audit

The impact of headache disorders: a prospective analysis of headache referrals to outpatient and inpatient neurology and emergency services in an Irish University teaching hospital

Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2

Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort

The Cost of Living with Inherited Ataxia in Ireland

DNMT1-associated sensory neuropathy and cerebellar ataxia: A novel variant and review of genotype-phenotype correlation

Phenotype expression in women with CMT1X

Expanding the phenotype of SLC12A6 -associated sensorimotor neuropathy

Clinical spectrum of AIFM1‐associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity

Scleromyxoedema, blistering lesions and progressive sensorimotor neuropathy in Waldenström’s macroglobulinaemia

X inactivation in females with X-linked Charcot–Marie–Tooth disease

Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation

Anti Ma2-associated myeloradiculopathy: expanding the phenotype of anti-Ma2 associated paraneoplastic syndromes

The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits

Charcot-Marie-Tooth disease

SCN9A-associated congenital insensitivity to pain and anosmia in an Irish patient

Suchergebnisse filtern