1 |
Impairment of protein degradation and proteasome function in hereditary neuropathies. ( 29076578
)
|
VerPlank J.J.S....Wrabetz L.
|
2018 |
2 |
|
|
2018 |
3 |
Causally treatable, hereditary neuropathies in Fabry's disease, transthyretin-related familial amyloidosis, and Pompe's disease. ( 28295152
)
|
Finsterer J....Grisold W.
|
2017 |
4 |
Towards a functional pathology of hereditary neuropathies. ( 27896434
)
|
Weis J....Senderek J.
|
2017 |
5 |
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene. ( 27816334
)
|
Rossor A.M....Reilly M.M.
|
2017 |
6 |
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. ( 28902413
)
|
|
2017 |
7 |
Hereditary Neuropathies: Update 2017. ( 28597455
)
|
|
2017 |
8 |
Ultrasound pattern sum score, homogeneity score and regional nerve enlargement index for differentiation of demyelinating inflammatory and hereditary neuropathies. ( 27291881
)
|
Grimm A....Axer H.
|
2016 |
9 |
Hereditary neuropathies: An update. ( 27866730
)
|
|
2016 |
10 |
Small Heat Shock Proteins and Distal Hereditary Neuropathies. ( 26878578
)
|
Nefedova V.V....Gusev N.B.
|
2015 |
11 |
The modified ultrasound pattern sum score mUPSS as additional diagnostic tool for genetically distinct hereditary neuropathies. ( 26559821
)
|
|
2015 |
12 |
Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies: From Gene Function to Associated Phenotypes. ( 25323870
)
|
Pareyson D....Piscosquito G.
|
2014 |
13 |
HSJ1-related hereditary neuropathies: Novel mutations and extended clinical spectrum. ( 25274842
)
|
|
2014 |
14 |
DNA testing in hereditary neuropathies. ( 23931782
)
|
Murphy S.M....Reilly M.M.
|
2013 |
15 |
Genetic spectrum of hereditary neuropathies with onset in the first year of life. ( 21840889
)
|
|
2011 |
16 |
Pes cavus and hereditary neuropathies: when a relationship should be suspected. ( 20963465
)
|
Piazza S....Mancuso M.
|
2010 |
17 |
Correlation between muscle atrophy on MRI and manual strength testing in hereditary neuropathies. ( 20399669
)
|
|
2010 |
18 |
Experimental therapeutics in hereditary neuropathies: the past, the present, and the future. ( 19019301
)
|
|
2008 |
19 |
|
Parman Y.
|
2007 |
20 |
Dispersion of compound muscle action potential in hereditary neuropathies and chronic inflammatory demyelinating polyneuropathy. ( 16823858
)
|
Stanton M....Herrmann D.N.
|
2006 |
21 |
Role of integrins in peripheral nerves and hereditary neuropathies. ( 16775376
)
|
Berti C....Feltri M.L.
|
2006 |
22 |
Laminins and their receptors in Schwann cells and hereditary neuropathies. ( 15958125
)
|
Feltri M.L....Wrabetz L.
|
2005 |
23 |
|
|
2005 |
24 |
Diagnosis of hereditary neuropathies in adult patients. ( 12574944
)
|
Pareyson D.
|
2003 |
25 |
|
Jaradeh S.S.
|
2003 |
26 |
|
|
2003 |
27 |
[Clinical aspects and diagnostic and therapeutic approaches to motor and sensory hereditary neuropathies (NHMS)]. ( 12235586
)
|
Colomer-Oferil J.
|
2002 |
28 |
Molecular basis of hereditary neuropathies. ( 11908222
)
|
Watts G.D....Chance P.F.
|
2002 |
29 |
[Molecular genetics of hereditary neuropathies]. ( 11299480
)
|
StAPgbauer F.
|
2001 |
30 |
Molecular basis of hereditary neuropathies. ( 11345007
)
|
Chance P.F.
|
2001 |
31 |
[Principal peripheral myelin proteins: functions and anomalies in hereditary neuropathies]. ( 11033526
)
|
Sindou P....Vallat J.M.
|
2000 |
32 |
Molecular genetics of hereditary neuropathies. ( 10223854
)
|
Chance P.F.
|
1999 |
33 |
Hereditary neuropathies in childhood: morphologic hallmarks and pathophysiologic mechanisms. ( 10223855
)
|
GabreAls-Festin A.
|
1999 |
34 |
Nerve Conduction Abnormalities and Neuromyotonia in Genetically Engineered Mouse Models of Human Hereditary Neuropathies. ( 29086933
)
|
Zielasek J....Toyka K.V.
|
1999 |
35 |
Nerve conduction abnormalities and neuromyotonia in genetically engineered mouse models of human hereditary neuropathies. ( 10586256
)
|
|
1999 |
36 |
Connexin32 in hereditary neuropathies. ( 10635032
)
|
|
1999 |
37 |
[The involvement of myelin proteins in hereditary neuropathies]. ( 10226313
)
|
|
1999 |
38 |
Hereditary neuropathies in children: the contribution of the new genetics. ( 8795847
)
|
|
1996 |
39 |
Functional abnormalities in P0-deficient mice resemble human hereditary neuropathies linked to P0 gene mutations. ( 8756159
)
|
|
1996 |
40 |
The association of hereditary neuropathies and heritable skeletal disorders. ( 7784290
)
|
|
1995 |
41 |
Single test for two hereditary neuropathies, CMT1A and HNPP. ( 7586531
)
|
|
1995 |
42 |
Demyelinating hereditary neuropathies in children: a morphometric and ultrastructural study. ( 7756749
)
|
Guzzetta F...Ferri?re G
|
1995 |
43 |
Mitochondrial abnormalities in human sural nerves: fine structural evaluation of cases with mitochondrial myopathy, hereditary and non-hereditary neuropathies, and review of the literature. ( 1785260
)
|
SchrAPder J.M....Sommer C.
|
1991 |
44 |
Pure axonal neuropathy: nerve xenografts and clinicopathological study of a family with peripheral neuropathy, hereditary ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain. ( 6252824
)
|
|
1980 |
45 |
Heredofamilial branchial plexus neuropathy (hereditary neuralgic amyotrophy with branchial predilection) in childhood. ( 205473
)
|
Dunn H.G....Gomez M.R.
|
1978 |
46 |
Neuropathological changes in hereditary neuropathies: manifestation of the syndrome heredopathia atactica polyneuritiformis in the presence of interstitial hypertrophic polyneuropathy. ( 13346397
)
|
|
1956 |