Hereditary peripheral neuropathies: with ... 20 tables
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Darmstadt
Steinkopff
2005
|
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | XVIII, 264 S. Ill., graph. Darst. |
| ISBN: | 3798514534 |
Internformat
MARC
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| 245 | 1 | 0 | |a Hereditary peripheral neuropathies |b with ... 20 tables |c G. Kuhlenbäumer ... (eds.) |
| 264 | 1 | |a Darmstadt |b Steinkopff |c 2005 | |
| 300 | |a XVIII, 264 S. |b Ill., graph. Darst. | ||
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Datensatz im Suchindex
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| adam_text |
Table of Contents
I General part
1
P. Young, M. Boentert
Introduction
1.1
1.2
1.2.1
1.2.2
1.2.3
1.2.4
1.3
References
I Approach to the patient
with suspected hereditary neuropathy
2
R.
Introduction
2.1
with peripheral neuropathy
2.2
with hereditary neuropathies
2.2.1
by the patient
2.2.2
2.2.3
2.2.4
2.3
of patients with suspected hereditary
neuropathy
1
2.3.1
2.3.2
2.4
with suspected hereditary neuropathy
2.4.1
preponderance
2.4.2
2.4.3
2.4.4
2.4.5
ofHSAN
2.4.6
References
3
of hereditary polyneuropathies
M.
3.1
3.2
polyneuropathies
3.3
diagnosis of different forms of hereditary
polyneuropathies
3.3.1
(CMT1/CMT4)
3.3.2
3.3.3
3.3.4
(CMTX)
3.3.5
3.3.6
3.3.7
3.3.8
pathies (HSAN)/hereditary sensory neuro¬
pathies (HSN)
3.3.9
to pressure palsy (HNPP)
3.3.10
3.3.11
References
Table of Contents I IX
4
A. SCHENONE
Introduction
4.1
(CMT1)
4.1.1
(CMT1A)
4.1.2
(CMT1B)
4.1.3
(CMT1C)
4.1.4
(CMT1D)
4.1.5
4.1.6
4.1.7
to pressure palsy (HNPP)
4.2
(CMT4)
4.2.1
(CMT4A)
4.2.2
and 4B2 (CMT4B1, CMT4B2)
4.2.3
(CMT4C)
4.2.4
(CMT4D)
4.2.5
(CMT4E)
4.2.6
(CMT4F)
4.3
(CMTX)
4.4
(CMT2)
4.5
neuropathies (HSAN)
4.5.1
neuropathy type
4.5.2
neuropathy type
4.5.3
neuropathy type
1
4.5.4
neuropathy type
(HSAN4 and HSAN5)
4.6
4.7
4.8
References
I Specific neuropathies, treatment and counseling
5
of hereditary peripheral neuropathies and rare
unclassified forms
G.
5.1
5.2
type of hereditary motor and sensory
neuropathies (HMSNs)
5.3
5.3.1
Lambert and Carney
5.3.2
neuropathies according to clinical subgroups
and genetic entities
5.4
pathies which do not fit into the current
classification schemes
5.4.1
(OMIM
5.4.2
peripheral neuropathy (ACCPN) or Ander-
man syndrome or hereditary motor and sen¬
sory neuropathy with agenesis of the
corpus callosum (HMSN/ACC)
carrier family
coding for the protein: KCC3)
(OMIM
Table of Contents
5.4.3
central dysmyelination and intestinal
(pseudo) obstruction (Waardenburg-Hirsch-
sprung disease)
scription factor (SOX10) (OMIM
5.4.4
deafness
(GJB3 or connexin31)
5.4.5
partial gonadal dysgenesis
(DHH) (OMIM
References
Charcot-Marie-Tooth disease type
and hereditary neuropathy with liability
to pressure palsy (HNPP)
E. Nelis, P.
6.1
6.1.1
6.1.2
6.1.3
6.1.4
6.2
or CMT4
6.2.1
6.2.2
6.2.3
6.2.4
References
CMT2, dominant intermediate CMT and CMTX
M.C. Hannibal, P.F. Chance
Introduction
7.1
7.1.1
7.1.2
7.2
Charcot-Marie-Tooth neuropathy
7.2.1
(OMIM
7.2.2
(OMIM
XII I Table of Contents
7.2.3
(OMIM
7.2.4
(OMIM
7.2.5
without Charcot-Marie-Tooth neuropathy
rho guanine nucleotide exchange factor
gene (ARHGEF10)
nerve conduction velocities, autosomal
dominant)
7.2.6
(OMIM
7.3
X-linked types
7.3.1
(GJB1, formerly connexin
(OMIM
7.3.2
(OMIM
7.3.3
(OMIM
7.3.4
310490,
axonal motor-sensory with deafness and
mental retardation, NAMSD)
References
8
F. Stögbauer,
Introduction
8.1
(HSP27 or HSBP1) (OMIM
8.2
(HSP22 or HSBP8) (OMIM
8.3
unknown
8.4
(OMIM
8.5
synthetase gene (GARS) (OMIM
Vb: Berardinelli Seip congenital muscular
dystrophy
8.6
protein
Table of Contents I XIII
8.7
(OMIM
8.8
(OMIM
8.9
sclerosis
(OMIM
8.10
9p21.1-pl2 (OMIM
References
9
(HSAN)
P.
Introduction
9.1
and neurophysiological examinations
9.1.1
9.1.2
9.2
9.2.1
1,
(OMIM
9.2.2
gene {HSN2)
9.2.3
Day syndrome)
polypeptide gene {IKBKAP, protein IKAP)
9.2.4
kinase
9.2.5
beta (NGFB), neurotrophin receptor tyrosine
kinase
References
10
G.
10.1
10.1.1
10.1.2
10.1.3
(also called idiopathic
neuritis, Parsonage-Turner syndrome)
XIV I Table of Contents
10.2
investigatons
10.3
10.4
References
11
neuropathies
G.
11.1
11.2
11.2.1
some CMT1A duplication/HNPP deletion
11.2.2
defects causing hereditary neuropathies
References
12
M. HOELTZENBEIN
Introduction
12.1
and consequences
12.2
counseling
12.3
12.3.1
12.3.2
12.3.3
12.4
References
13
P. Young
Introduction
13.1
13.1.1
13.1.2
13.2
13.2.1
13.2.2 Autonomie
Table of Contents I XV
13.2.3
References
14
management and therapy of CMT patients
R.
Introduction
14.1
14.2
14.3
14.4
14.5
14.5.1
14.5.2
14.5.3
14.5.4
14.6
References
15
P. Young, U.
Introduction
15.1
peripheral myelin protein
15.1.1
15.1.2
15.1.3
15.1.4
15.1.5
trembler, trembler J, Tr-mlH, Tr-m2H
15.2
protein zero (mpz) knockout mice
15.3
gap-junction-protein beta
mice
15.4
(prx) knockout mice
15.5
protein
15.6
light chain (nefl) knockout mice
XVI I Table of Contents
15.7
(Imna) knockout mice
15.8
References
Appendix: genetic testing laboratories
and support groups
G.
Subject Index |
| adam_txt |
Table of Contents
I General part
1
P. Young, M. Boentert
Introduction
1.1
1.2
1.2.1
1.2.2
1.2.3
1.2.4
1.3
References
I Approach to the patient
with suspected hereditary neuropathy
2
R.
Introduction
2.1
with peripheral neuropathy
2.2
with hereditary neuropathies
2.2.1
by the patient
2.2.2
2.2.3
2.2.4
2.3
of patients with suspected hereditary
neuropathy
1
2.3.1
2.3.2
2.4
with suspected hereditary neuropathy
2.4.1
preponderance
2.4.2
2.4.3
2.4.4
2.4.5
ofHSAN
2.4.6
References
3
of hereditary polyneuropathies
M.
3.1
3.2
polyneuropathies
3.3
diagnosis of different forms of hereditary
polyneuropathies
3.3.1
(CMT1/CMT4)
3.3.2
3.3.3
3.3.4
(CMTX)
3.3.5
3.3.6
3.3.7
3.3.8
pathies (HSAN)/hereditary sensory neuro¬
pathies (HSN)
3.3.9
to pressure palsy (HNPP)
3.3.10
3.3.11
References
Table of Contents I IX
4
A. SCHENONE
Introduction
4.1
(CMT1)
4.1.1
(CMT1A)
4.1.2
(CMT1B)
4.1.3
(CMT1C)
4.1.4
(CMT1D)
4.1.5
4.1.6
4.1.7
to pressure palsy (HNPP)
4.2
(CMT4)
4.2.1
(CMT4A)
4.2.2
and 4B2 (CMT4B1, CMT4B2)
4.2.3
(CMT4C)
4.2.4
(CMT4D)
4.2.5
(CMT4E)
4.2.6
(CMT4F)
4.3
(CMTX)
4.4
(CMT2)
4.5
neuropathies (HSAN)
4.5.1
neuropathy type
4.5.2
neuropathy type
4.5.3
neuropathy type
1
4.5.4
neuropathy type
(HSAN4 and HSAN5)
4.6
4.7
4.8
References
I Specific neuropathies, treatment and counseling
5
of hereditary peripheral neuropathies and rare
unclassified forms
G.
5.1
5.2
type of hereditary motor and sensory
neuropathies (HMSNs)
5.3
5.3.1
Lambert and Carney
5.3.2
neuropathies according to clinical subgroups
and genetic entities
5.4
pathies which do not fit into the current
classification schemes
5.4.1
(OMIM
5.4.2
peripheral neuropathy (ACCPN) or Ander-
man syndrome or hereditary motor and sen¬
sory neuropathy with agenesis of the
corpus callosum (HMSN/ACC)
carrier family
coding for the protein: KCC3)
(OMIM
Table of Contents
5.4.3
central dysmyelination and intestinal
(pseudo) obstruction (Waardenburg-Hirsch-
sprung disease)
scription factor (SOX10) (OMIM
5.4.4
deafness
(GJB3 or connexin31)
5.4.5
partial gonadal dysgenesis
(DHH) (OMIM
References
Charcot-Marie-Tooth disease type
and hereditary neuropathy with liability
to pressure palsy (HNPP)
E. Nelis, P.
6.1
6.1.1
6.1.2
6.1.3
6.1.4
6.2
or CMT4
6.2.1
6.2.2
6.2.3
6.2.4
References
CMT2, dominant intermediate CMT and CMTX
M.C. Hannibal, P.F. Chance
Introduction
7.1
7.1.1
7.1.2
7.2
Charcot-Marie-Tooth neuropathy
7.2.1
(OMIM
7.2.2
(OMIM
XII I Table of Contents
7.2.3
(OMIM
7.2.4
(OMIM
7.2.5
without Charcot-Marie-Tooth neuropathy
rho guanine nucleotide exchange factor
gene (ARHGEF10)
nerve conduction velocities, autosomal
dominant)
7.2.6
(OMIM
7.3
X-linked types
7.3.1
(GJB1, formerly connexin
(OMIM
7.3.2
(OMIM
7.3.3
(OMIM
7.3.4
310490,
axonal motor-sensory with deafness and
mental retardation, NAMSD)
References
8
F. Stögbauer,
Introduction
8.1
(HSP27 or HSBP1) (OMIM
8.2
(HSP22 or HSBP8) (OMIM
8.3
unknown
8.4
(OMIM
8.5
synthetase gene (GARS) (OMIM
Vb: Berardinelli Seip congenital muscular
dystrophy
8.6
protein
Table of Contents I XIII
8.7
(OMIM
8.8
(OMIM
8.9
sclerosis
(OMIM
8.10
9p21.1-pl2 (OMIM
References
9
(HSAN)
P.
Introduction
9.1
and neurophysiological examinations
9.1.1
9.1.2
9.2
9.2.1
1,
(OMIM
9.2.2
gene {HSN2)
9.2.3
Day syndrome)
polypeptide gene {IKBKAP, protein IKAP)
9.2.4
kinase
9.2.5
beta (NGFB), neurotrophin receptor tyrosine
kinase
References
10
G.
10.1
10.1.1
10.1.2
10.1.3
(also called idiopathic
neuritis, Parsonage-Turner syndrome)
XIV I Table of Contents
10.2
investigatons
10.3
10.4
References
11
neuropathies
G.
11.1
11.2
11.2.1
some CMT1A duplication/HNPP deletion
11.2.2
defects causing hereditary neuropathies
References
12
M. HOELTZENBEIN
Introduction
12.1
and consequences
12.2
counseling
12.3
12.3.1
12.3.2
12.3.3
12.4
References
13
P. Young
Introduction
13.1
13.1.1
13.1.2
13.2
13.2.1
13.2.2 Autonomie
Table of Contents I XV
13.2.3
References
14
management and therapy of CMT patients
R.
Introduction
14.1
14.2
14.3
14.4
14.5
14.5.1
14.5.2
14.5.3
14.5.4
14.6
References
15
P. Young, U.
Introduction
15.1
peripheral myelin protein
15.1.1
15.1.2
15.1.3
15.1.4
15.1.5
trembler, trembler J, Tr-mlH, Tr-m2H
15.2
protein zero (mpz) knockout mice
15.3
gap-junction-protein beta
mice
15.4
(prx) knockout mice
15.5
protein
15.6
light chain (nefl) knockout mice
XVI I Table of Contents
15.7
(Imna) knockout mice
15.8
References
Appendix: genetic testing laboratories
and support groups
G.
Subject Index |
| any_adam_object | 1 |
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| genre | (DE-588)4143413-4 Aufsatzsammlung gnd-content |
| genre_facet | Aufsatzsammlung |
| id | DE-604.BV021240943 |
| illustrated | Illustrated |
| index_date | 2024-07-02T13:31:18Z |
| indexdate | 2024-08-14T00:51:14Z |
| institution | BVB |
| isbn | 3798514534 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-014283643 |
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| physical | XVIII, 264 S. Ill., graph. Darst. |
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| publisher | Steinkopff |
| record_format | marc |
| spelling | Hereditary peripheral neuropathies with ... 20 tables G. Kuhlenbäumer ... (eds.) Darmstadt Steinkopff 2005 XVIII, 264 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Peripheres Nervensystem - Krankheit - Erbkrankheit - Aufsatzsammlung Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Krankheit (DE-588)4032844-2 gnd rswk-swf Peripheres Nervensystem (DE-588)4173794-5 gnd rswk-swf (DE-588)4143413-4 Aufsatzsammlung gnd-content Peripheres Nervensystem (DE-588)4173794-5 s Krankheit (DE-588)4032844-2 s Erbkrankheit (DE-588)4015106-2 s DE-604 Kuhlenbäumer, Gregor 1964- Sonstige (DE-588)115792589 oth Erscheint auch als Online-Ausgabe 978-3-7985-1586-4 (DE-604)BV022363865 Digitalisierung UBRegensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014283643&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Hereditary peripheral neuropathies with ... 20 tables Peripheres Nervensystem - Krankheit - Erbkrankheit - Aufsatzsammlung Erbkrankheit (DE-588)4015106-2 gnd Krankheit (DE-588)4032844-2 gnd Peripheres Nervensystem (DE-588)4173794-5 gnd |
| subject_GND | (DE-588)4015106-2 (DE-588)4032844-2 (DE-588)4173794-5 (DE-588)4143413-4 |
| title | Hereditary peripheral neuropathies with ... 20 tables |
| title_auth | Hereditary peripheral neuropathies with ... 20 tables |
| title_exact_search | Hereditary peripheral neuropathies with ... 20 tables |
| title_exact_search_txtP | Hereditary peripheral neuropathies with ... 20 tables |
| title_full | Hereditary peripheral neuropathies with ... 20 tables G. Kuhlenbäumer ... (eds.) |
| title_fullStr | Hereditary peripheral neuropathies with ... 20 tables G. Kuhlenbäumer ... (eds.) |
| title_full_unstemmed | Hereditary peripheral neuropathies with ... 20 tables G. Kuhlenbäumer ... (eds.) |
| title_short | Hereditary peripheral neuropathies |
| title_sort | hereditary peripheral neuropathies with 20 tables |
| title_sub | with ... 20 tables |
| topic | Peripheres Nervensystem - Krankheit - Erbkrankheit - Aufsatzsammlung Erbkrankheit (DE-588)4015106-2 gnd Krankheit (DE-588)4032844-2 gnd Peripheres Nervensystem (DE-588)4173794-5 gnd |
| topic_facet | Peripheres Nervensystem - Krankheit - Erbkrankheit - Aufsatzsammlung Erbkrankheit Krankheit Peripheres Nervensystem Aufsatzsammlung |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014283643&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT kuhlenbaumergregor hereditaryperipheralneuropathieswith20tables |