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Nav1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

Brain (London, England : 1878), 2014-04, Vol.137 (Pt 4), p.998-1008

2014

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Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Brain (London, England : 1878), 2010-06, Vol.133 (6), p.1798-1809

2010

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NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models

Human molecular genetics, 2014-10, Vol.23 (20), p.5353-5363

2014

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Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan

Human molecular genetics, 2003-11, Vol.12 (21), p.2853-2861

2003

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Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease

Human molecular genetics, 1995-10, Vol.4 (10), p.1859-1863

1995

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Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype–phenotype correlation study

Brain (London, England : 1878), 2008-05, Vol.131 (5), p.1217-1227

2008

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Na sub(V)1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

Brain (London, England : 1878), 2014-04, Vol.137 (4), p.998-1008

2014

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The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V

Brain (London, England : 1878), 2004-09, Vol.127 (9), p.2124-2130

2004

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On the pathogenesis of collagen VI muscular dystrophies—Comment on article of Hicks et al

Brain (London, England : 1878), 2009-10, Vol.132 (10), p.e121-e121

2009

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A 3′ consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions

Human molecular genetics, 1992-08, Vol.1 (5), p.345-346

1992

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Heart-Specific Localization of Emerin: New Insights Into Emery-Dreifuss Muscular Dystrophy

Human molecular genetics, 1997-12, Vol.6 (13), p.2257-2264

1997

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Hereditary motor and sensory neuropathy-Lom, a novel demyelinating neuropathy associated with deafness in gypsies: Clinical, electrophysiological and nerve biopsy findings

Brain (London, England : 1878), 1998-03, Vol.121 (3), p.399-408

1998

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Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of -dystroglycan

Human molecular genetics, 2003-11, Vol.12 (21), p.2853-2861

Longman, C.

2003

Volltextzugriff (PDF)

Mutations in the human LARGE gene cause MCD1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan

Human molecular genetics, 2003, Vol.12 (21), p.2853-2861

2003

Volltextzugriff (PDF)

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Nav1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan

Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype–phenotype correlation study

Na sub(V)1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V

On the pathogenesis of collagen VI muscular dystrophies—Comment on article of Hicks et al

A 3′ consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions

Heart-Specific Localization of Emerin: New Insights Into Emery-Dreifuss Muscular Dystrophy

Hereditary motor and sensory neuropathy-Lom, a novel demyelinating neuropathy associated with deafness in gypsies: Clinical, electrophysiological and nerve biopsy findings

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of -dystroglycan

Mutations in the human LARGE gene cause MCD1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan

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