P. Young

发表

Clinical features and molecular genetics of hereditary peripheral neuropathies

G. Kuhlenbäumer, F. Stögbauer, B. Ringelstein, 2002, Journal of Neurology.

Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A

T. Beißbarth, B. Schlotter-Weigel, A. Leha, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

Intraepidermal nerve fibre density as biomarker in Charcot–Marie–Tooth disease type 1A

B. Schlotter-Weigel, C. Sommer, M. Sereda, 2020, Brain communications.

Hereditary recurrent focal neuropathies

V. Timmerman, G. Kuhlenbäumer, P. de Jonghe, 2000, Neurology.

Susac Syndrome Treated with Subcutaneous Immunoglobulin

E. Ringelstein, J. Dörr, T. Duning, 2013, European Neurology.

A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies

G. Assmann, H. Wiebusch, H. Funke, 1997, Neurology.

PMP22 Thr118Met is not a clinically relevant CMT1 marker

C. van Broeckhoven, B. Rautenstrauss, V. Timmerman, 2000, Journal of Neurology.

PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A

E. Ringelstein, C. van Broeckhoven, G. Assmann, 1998, Neurology.

A Second Family with Autosomal Dominant Burning Feet Syndrome

C. van Broeckhoven, V. Timmerman, G. Kuhlenbäumer, 1999, Annals of the New York Academy of Sciences.

Giant axonal neuropathy (GAN): Case report and two novel mutations in the gigaxonin gene

K. Domschke, A. Schirmacher, G. Kuhlenbäumer, 2002, Neurology.

A sequence-ready BAC/PAC contig and partial transcript map of approximately 1.5 Mb in human chromosome 17q25 comprising multiple disease genes.

C. van Broeckhoven, J. Meuleman, V. Timmerman, 1999, Genomics.

Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome

C. Broeckhoven, G. Assmann, H. Wiebusch, 1998, Neuroscience Letters.

Mutation analysis in Charcot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity

G. Kuhlenbäumer, H. Funke, O. Debus, 2001, Journal of Neurology.

Is triceps hypertrophy associated with ulnar nerve luxation?

Arwed E. Michael, P. Young, 2018, Muscle & nerve.

Autosomal dominant burning feet syndrome

C. van Broeckhoven, V. Timmerman, J. Weis, 1999, Journal of neurology, neurosurgery, and psychiatry.

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

E. Ringelstein, J. Meuleman, T. Bird, 2005, Nature Genetics.

A case of triploidy.

P. Young, G. Sunanda, R. Dalmia, 2005, Fertility and sterility.

Treatment for Charcot-Marie-Tooth disease.

P. de Jonghe, P. Jonghe, Peter De Jonghe, 2008, The Cochrane database of systematic reviews.

Ascorbic acid for the treatment of Charcot-Marie-Tooth disease.

D. Pareyson, M. Reilly, P. de Jonghe, 2015, The Cochrane database of systematic reviews.

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients

T. Beißbarth, B. Schlotter-Weigel, A. Leha, 2014, Neuromuscular Disorders.

Brachial plexus involvement as the only expression of hereditary neuropathy with liability to pressure palsies

K. Ørstavik, F. Stögbauer, P. Young, 2001, Muscle & nerve.

Pregabalin-associated acute psychosis and epileptiform EEG-changes

C. Kellinghaus, S. Evers, T. Ellger, 2006, Seizure.

DIFFUSION TENSOR IMAGING DEMONSTRATES FIBER IMPAIRMENT IN SUSAC SYNDROME

S Mohammadi, M Deppe, E B Ringelstein, 2008, Neurology.

Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25

C. Broeckhoven, J. Meuleman, E. Airaksinen, 1999, European Journal of Human Genetics.

Recurrent brachial plexus palsies as the only clinical expression of hereditary neuropathy with liability to pressure palsies associated with a de novo deletion of the peripheral myelin protein‐22 gene

G. Assmann, H. Funke, M. Kerschensteiner, 1998, Muscle & nerve.

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation

H. Lohmann, T. Duning, T. Warnecke, 2007, Neurology.

[X-chromosomal recessive spinobulbar muscular atrophy (Kennedy type). Description of a family, clinical aspects, molecular genetics, differential diagnosis and therapy].

G. Kuhlenbäumer, C. Oberwittler, W. Kress, 1998, Der Nervenarzt.

Hereditary Peripheral Neuropathies

E. Ringelstein, G. Kuhlenbäumer, F. Stögbauer, 2005 .

Autosomal dominant striatal degeneration (ADSD)

M. Hund-Georgiadis, C. van Broeckhoven, G. Schuierer, 2004, Neurology.

PMP22 frameshift mutation and hereditary neuropathy with liability to pressure palsies

G. Assmann, H. Wiebusch, H. Funke, 1997, Neurology.

Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24–q25

C. Broeckhoven, V. Timmerman, G. Kurlemann, 1997, Human Genetics.

Efficacy of camptothecin in progressive multifocal leucoencephalopathy

E. Ringelstein, P. Young, J. Vollmer‐Haase, 1997, The Lancet.

Efficacy of camptothecin in progressive multifocal leucoencephalopathy

E. Ringelstein, P. Young, J. Vollmer‐Haase, 1997, The Lancet.

Susac’s syndrome: effective combination of immunosuppression and antiplatelet treatment

E. Ringelstein, I. Kleffner, T. Niederstadt, 2006, Journal of Neurology, Neurosurgery & Psychiatry.

Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy

J. Meuleman, P. Chance, V. Timmerman, 2004, Muscle & nerve.

Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous

C. van Broeckhoven, J. Meuleman, B. Falck, 2001, Journal of Neurology.

Blistering Skin Conditions

P. Young, 2010 .

Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA)

C. van Broeckhoven, J. Meuleman, V. Timmerman, 2001, Human Genetics.

A novel missense mutation of the PMP22 gene causing HNPP without generalized electrophysiologic abnormalities

M. Boentert, F. Stögbauer, P. Young, 2004 .