UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 34

Sortiert nach

Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

International journal of molecular sciences, 2020-03, Vol.21 (6), p.2221

2020

Volltextzugriff (PDF)

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

Acta neuropathologica, 2017-12, Vol.134 (6), p.889-904

2017

Volltextzugriff (PDF)

Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptoms

Molecular genetics & genomic medicine, 2019-10, Vol.7 (10), p.e00881-n/a

2019

Volltextzugriff (PDF)

Comparative diagnosis interest of NfL and pNfH in CSF and plasma in a context of FTD–ALS spectrum

Journal of neurology, 2022-03, Vol.269 (3), p.1522-1529

2022

Volltextzugriff (PDF)

Familial orbital myositis

Journal of neurology, 2007-05, Vol.254 (5), p.666-667, Article 666

2007

Volltextzugriff (PDF)

Analysis of the DYSF mutational spectrum in a large cohort of patients

Human mutation, 2009-02, Vol.30 (2), p.E345-E375

2009

Volltextzugriff (PDF)

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5

Brain (London, England : 1878), 2018-01, Vol.141 (1), p.72-84

2018

Volltextzugriff (PDF)

The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis

Brain (London, England : 1878), 2024-05, Vol.147 (5), p.1768-1783

2024

Volltextzugriff (PDF)

Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion

Neuromuscular disorders : NMD, 2016-04, Vol.26 (4-5), p.316-321

2016

Volltextzugriff (PDF)

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

Brain (London, England : 1878), 2012-10, Vol.135 (Pt 10), p.2980-2993

2012

Volltextzugriff (PDF)

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

Orphanet journal of rare diseases, 2015-01, Vol.10 (1), p.2-2

2015

Volltextzugriff (PDF)

High intra-familiar clinical variability in MORC2 mutated CMT2 patients

Brain (London, England : 1878), 2017-04, Vol.140 (4), p.e21-e21

2017

Volltextzugriff (PDF)

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations

Journal of the peripheral nervous system, 2006-06, Vol.11 (2), p.148-155

2006

Volltextzugriff (PDF)

Dysferlin deficiency treated like refractory polymyositis

Clinical rheumatology, 2010, Vol.29 (1), p.103-106

2010

Volltextzugriff (PDF)

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

Genome medicine, 2022-06, Vol.14 (1), p.1-69, Article 69

2022

Volltextzugriff (PDF)

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

Nature genetics, 2005-09, Vol.37 (9), p.964-968

2005

Volltextzugriff (PDF)

Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds

Journal of neurology, neurosurgery and psychiatry, 2010-11, Vol.81 (11), p.1229-1232

2010

Volltextzugriff (PDF)

NF2 Gene in Neurofibromatosis Type 2 Patients

Human molecular genetics, 1998-12, Vol.7 (13), p.2095-2101

1998

Volltextzugriff (PDF)

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia

Archives of neurology (Chicago), 2011-05, Vol.68 (5), p.637

2011

Volltextzugriff (PDF)

RESEARCH REPORT: SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations

Journal of the peripheral nervous system, 2006-06, Vol.11 (2), p.148-155

2006

Volltextzugriff (PDF)

1 – 25 von 34

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(31)
Mit Volltextzugriff
(30)

Publikationsform

Artikel
(33)
Berichte
(1)

Sprache

Englisch
(34)
Japanisch
(3)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptoms

Comparative diagnosis interest of NfL and pNfH in CSF and plasma in a context of FTD–ALS spectrum

Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials

Familial orbital myositis

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

Analysis of the DYSF mutational spectrum in a large cohort of patients

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5

The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis

Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

High intra-familiar clinical variability in MORC2 mutated CMT2 patients

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias: HUMAN MUTATION

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations

Dysferlin deficiency treated like refractory polymyositis

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds

NF2 Gene in Neurofibromatosis Type 2 Patients

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia

RESEARCH REPORT: SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations

Suchergebnisse filtern