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Hereditary Peripheral Neuropathies

Gregor Kuhlenbäumer Florian Stögbauer E. Bernd Ringelstein Peter Young

Resumen/Descripción – provisto por la editorial

No disponible.

Palabras clave – provistas por la editorial

Neurology; Human Genetics; Pediatrics; Orthopedics

Disponibilidad
Institución detectada Año de publicación Navegá Descargá Solicitá
No detectada 2005 SpringerLink

Información

Tipo de recurso:

libros

ISBN impreso

978-3-7985-1453-9

ISBN electrónico

978-3-7985-1586-4

Editor responsable

Springer Nature

País de edición

Reino Unido

Fecha de publicación

Información sobre derechos de publicación

© Steinkopff Verlag Darmstadt 2005

Cobertura temática

medicina-basica

Medicina básica

medicina-clinica

Medicina clínica

salud

Ciencias de la salud

Tabla de contenidos

doi: 10.1007/3-7985-1586-7_1

Architecture of the peripheral nerve

P. Young; M. Boentert

Palabras clave: Schwann Cell; Myelin Basic Protein; Myelin Sheath; Myelinated Nerve Fiber; Hereditary Neuropathy.

Pp. 3-12

doi: 10.1007/3-7985-1586-7_2

Clinical evaluation and differential diagnosis

R. Kiefer; E.B. Ringelstein

Palabras clave: Fabry Disease; Painful Neuropathy; Friedreich Ataxia; Hereditary Neuropathy; Peroneal Muscle.

Pp. 15-28

doi: 10.1007/3-7985-1586-7_3

Elecrodiagnostic evaluation of hereditary polyneuropaties

M. MÜller

Palabras clave: Nerve Conduction Study; Sympathetic Skin Response; Familial Dysautonomia; Hereditary Neuropathy; Giant Axonal Neuropathy.

Pp. 29-40

doi: 10.1007/3-7985-1586-7_4

Principles of pathology and nerve biopsy

A. Schenone

Palabras clave: Myelinated Fiber; Nerve Biopsy; Onion Bulb; Sural Nerve Biopsy; Hereditary Motor.

Pp. 41-70

doi: 10.1007/3-7985-1586-7_5

Overview of the classification and genetics of hereditary peripheral neuropathies and rare unclassified forms

G. KuhlenbÄumer

Palabras clave: Peripheral Neuropathy; Hereditary Spastic Paraplegia; Motor Nerve Conduction Velocity; Sural Nerve Biopsy; Hereditary Motor.

Pp. 73-91

doi: 10.1007/3-7985-1586-7_6

Charcot-Marie-Tooth disease type 1 (CMT1) and hereditary neuropathy with liability to pressure palsy (HNPP)

E. Nelis; P. De Jonghe; V. Timmerman

Palabras clave: Hereditary Neuropathy; Myelin Protein Zero; PMP22 Gene; Peripheral Myelin Protein; Pressure Palsy.

Pp. 92-120

doi: 10.1007/3-7985-1586-7_7

CMT2, dominant intermediate CMT and CMTX

M.C. Hannibal; P.F. Chance

Palabras clave: Hereditary Motor; Myelin Protein Zero; Vocal Cord Paresis; Distal Hereditary Motor Neuropathy; Myelin Protein Zero Gene.

Pp. 121-145

doi: 10.1007/3-7985-1586-7_8

Distal hereditary motor neuropathies (dHMN)

F. StÖgbauer; G. KuhlenbÄumer

Palabras clave: Spinal Muscular Atrophy; Vocal Cord Paralysis; Hereditary Spastic Paraplegia; Congenital Muscular Dystrophy; Progressive Muscular Atrophy.

Pp. 146-156

doi: 10.1007/3-7985-1586-7_9

Hereditary sensory and autonomic neuropathies (HSAN)

P. De Jonghe; G. KuhlenbÄumer

Palabras clave: Autonomic Neuropathy; Familial Dysautonomia; Unmyelinated Fiber; Fungiform Papilla; Carotid Sinus Massage.

Pp. 157-169

doi: 10.1007/3-7985-1586-7_10

Hereditary neuralgic amyotrophy (HNA)

G. KuhlenbÄumer

Palabras clave: Brachial Plexus; Dysmorphic Feature; Hereditary Neuropathy; Pressure Palsy; Chromosome 17q25 Locus.

Pp. 170-178