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...

Phenotype of Charcot-Marie-Tooth disease Type 2

Neurology, 2007-05, Vol.68 (20), p.1658-1667

2007

Volltextzugriff (PDF)

Overloaded Endoplasmic Reticulum-Golgi Compartments, a Possible Pathomechanism of Peripheral Neuropathies Caused by Mutations of the Peripheral Myelin Protein PMP22

The Journal of neuroscience, 1998-01, Vol.18 (2), p.731-740

1998

Volltextzugriff (PDF)

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

Neurology, 2002-12, Vol.59 (12), p.1865-1872

2002

Volltextzugriff (PDF)

Histology of hereditary neuralgic amyotrophy

Journal of neurology, neurosurgery and psychiatry, 2005-03, Vol.76 (3), p.445-447

2005

Volltextzugriff (PDF)

Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status

Brain (London, England : 1878), 1996-06, Vol.119 (3), p.997-1010

1996

Volltextzugriff (PDF)

Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation

Journal of neurology, neurosurgery and psychiatry, 2006-04, Vol.77 (4), p.534-537

2006

Volltextzugriff (PDF)

Transient cerebral white matter lesions in a patient with connexin 32 missense mutation

Neurology, 2002-12, Vol.59 (12), p.2007-2008

2002

Volltextzugriff (PDF)

Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot–Marie–Tooth type 1A

Brain (London, England : 1878), 2000-05, Vol.123 (5), p.1001-1006

2000

Volltextzugriff (PDF)

Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A) : normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs

Acta neuropathologica, 1997-10, Vol.94 (4), p.310-315

1997

Volltextzugriff (PDF)

A statistical approach to fiber diameter distribution in human sural nerve

Muscle & nerve, 1993-12, Vol.16 (12), p.1342-1350

1993

Volltextzugriff (PDF)

Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies

Annals of neurology, 1996-10, Vol.40 (4), p.672-675

1996

Volltextzugriff (PDF)

Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutations

Otology & neurotology, 2005-05, Vol.26 (3), p.405-414

2005

Volltextzugriff (PDF)

Hereditary neuropathy with liability to pressure palsies : Phenotypic differences between patients with the common deletion and a pmp22 frame shift mutation

Brain (London, England : 1878), 1998-08, Vol.121 (8), p.1451-1458

1998

Volltextzugriff (PDF)

Conduction velocity distributions compared to fiber size distributions in normal human sural nerve

Muscle & nerve, 1995-10, Vol.18 (10), p.1121-1127

1995

Volltextzugriff (PDF)

Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies

Annals of neurology, 1994-10, Vol.36 (4), p.650-655

1994

Volltextzugriff (PDF)

Axilla skin biopsy: A reliable test for the diagnosis of Lafora's disease

Annals of neurology, 1987-06, Vol.21 (6), p.599-601

1987

Volltextzugriff (PDF)

Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease

Neurology, 1996-09, Vol.47 (3), p.761

1996

Volltextzugriff (PDF)

Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2

Neurology, 2001-06, Vol.56 (12), p.1766-1768

2001

Volltextzugriff (PDF)

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies

Human genetics, 1994-02, Vol.93 (2), p.151-156

1994

Volltextzugriff (PDF)

CONGENITAL DEMYELINATING MOTOR AND SENSORY NEUROPATHY WITH FOCALLY FOLDED MYELIN SHEATHS

Brain (London, England : 1878), 1990-12, Vol.113 (6), p.1629-1643

1990

Volltextzugriff (PDF)

Hereditary neuropathy with liability to pressure palsies in childhood

Neuropediatrics, 1992-06, Vol.23 (3), p.138-143

1992

Volltextzugriff (PDF)

Peripheral Nerve Elongation by Laser Doppler Flowmetry-Monitored Expansion: An Experimental Basis for Future Application in the Management of Peripheral Nerve Defects

Plastic and reconstructive surgery (1963), 1996-03, Vol.97 (3), p.568-576

1996

Volltextzugriff (PDF)

Low affinity NGF receptor expression in CMT1A nerve biopsies of different disease stages

Brain (London, England : 1878), 1996-10, Vol.119 (5), p.1461-1469

1996

Volltextzugriff (PDF)

Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene

Neuromuscular disorders : NMD, 2002-10, Vol.12 (7), p.651-655

2002

Volltextzugriff (PDF)

Charcot-Marie-Tooth disease type 1A : morphological phenotype of the 17p duplication versus PMP22 point mutations

Acta neuropathologica, 1995-12, Vol.90 (6), p.645-649

1995

Volltextzugriff (PDF)

1 – 25 von 69

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(65)
Mit Volltextzugriff
(50)

Publikationsform

Artikel
(68)
Berichte
(1)

Sprache

Englisch
(69)

Erscheinungsjahr

n.n

Thema

Humans
(59)
Life Sciences & Biomedicine
(55)
Science & Technology
(55)
Neurosciences & Neurology
(49)
Clinical Neurology
(47)
Biological And Medical Sciences
(44)
Medical Sciences
(42)
Female
(39)
Neurology
(37)
Male
(32)
Neurosciences
(31)
Adult
(30)
Sural Nerve - Pathology
(27)
Adolescent
(26)
Child
(23)
Middle Aged
(19)
Biopsy
(18)
Charcot-Marie-Tooth Disease - Genetics
(17)
Child, Preschool
(17)
Microscopy, Electron
(14)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Phenotype of Charcot-Marie-Tooth disease Type 2

Overloaded Endoplasmic Reticulum-Golgi Compartments, a Possible Pathomechanism of Peripheral Neuropathies Caused by Mutations of the Peripheral Myelin Protein PMP22

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

Histology of hereditary neuralgic amyotrophy

Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status

Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation

Transient cerebral white matter lesions in a patient with connexin 32 missense mutation

Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot–Marie–Tooth type 1A

Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A) : normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs

A statistical approach to fiber diameter distribution in human sural nerve

Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies

Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutations

Hereditary neuropathy with liability to pressure palsies : Phenotypic differences between patients with the common deletion and a pmp22 frame shift mutation

Conduction velocity distributions compared to fiber size distributions in normal human sural nerve

Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies

Axilla skin biopsy: A reliable test for the diagnosis of Lafora's disease

Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease

Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies

CONGENITAL DEMYELINATING MOTOR AND SENSORY NEUROPATHY WITH FOCALLY FOLDED MYELIN SHEATHS

Hereditary neuropathy with liability to pressure palsies in childhood

Peripheral Nerve Elongation by Laser Doppler Flowmetry-Monitored Expansion: An Experimental Basis for Future Application in the Management of Peripheral Nerve Defects

Low affinity NGF receptor expression in CMT1A nerve biopsies of different disease stages

Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene

Charcot-Marie-Tooth disease type 1A : morphological phenotype of the 17p duplication versus PMP22 point mutations

Suchergebnisse filtern