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