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P. Huppke · SciRah

Researcher profile · Semantic Scholar

P. Huppke

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P. Huppke — researcher profile on SciRah

h-index: 39
Works: 133
Citations: 5,727

Most-cited papers

Rett syndrome: Revised diagnostic criteria and nomenclature
J. Neul, W. E. Kaufmann, Daniel G. Glaze, J. Christodoulou +9 more
2010Annals of Neurology1,333 citations Open access
Semantic Scholar
Anti-myelin oligodendrocyte glycoprotein antibodies in pediatric patients with optic neuritis.
K. Rostásy, S. Mader, K. Schanda, P. Huppke +11 more
2012Archives of Neurology188 citations
Semantic Scholar
Breathing dysfunctions associated with impaired control of postinspiratory activity in Mecp2−/y knockout mice
G. Stettner, P. Huppke, C. Brendel, D. W. Richter +2 more
2007Journal of Physiology162 citations Open access
Semantic Scholar
Wild type microglia do not arrest pathology in mouse models of Rett syndrome
Jie-Qi Wang, J. Wegener, Teng-Wei Huang, S. Sripathy +36 more
2015Nature150 citations Open access
Semantic Scholar
Acute disseminated encephalomyelitis followed by recurrent or monophasic optic neuritis in pediatric patients
P. Huppke, K. Rostásy, M. Karenfort, B. Huppke +4 more
2013Multiple Sclerosis145 citations Open access
Semantic Scholar
Treatment of MOG antibody associated disorders: results of an international survey
D. Whittam, V. Karthikeayan, E. Gibbons, R. Kneen +60 more
2020Journal of Neurology134 citations Open access
Semantic Scholar
The expanding clinical and genetic spectrum of ATP1A3-related disorders
H. Rosewich, A. Ohlenbusch, P. Huppke, L. Schlotawa +8 more
2014Neurology108 citations
Semantic Scholar
Clinical presentation of pediatric multiple sclerosis before puberty
B. Huppke, D. Ellenberger, H. Rosewich, T. Friede +2 more
2014European Journal of Neurology105 citations
Semantic Scholar
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
P. Huppke, C. Brendel, V. Kalscheuer, G. Korenke +16 more
2012American Journal of Human Genetics103 citations Open access
Semantic Scholar
Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model
C. Brendel, V. Belakhov, H. Werner, Eike Wegener +4 more
2010Journal of molecular medicine98 citations Open access
Semantic Scholar
Natalizumab use in pediatric multiple sclerosis.
P. Huppke, W. Stark, C. Zürcher, B. Huppke +2 more
2008Archives of Neurology97 citations Open access
Semantic Scholar
Extensive Acute Axonal Damage in Pediatric Multiple Sclerosis Lesions
S. Pfeifenbring, R. Bunyan, I. Metz, C. Röver +4 more
2015Annals of Neurology89 citations Open access
Semantic Scholar
Association of Obesity With Multiple Sclerosis Risk and Response to First-line Disease Modifying Drugs in Children.
B. Huppke, D. Ellenberger, H.-M. Hummel, W. Stark +3 more
2019JAMA Neurology81 citations Open access
Semantic Scholar
Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder
P. Huppke, S. Weissbach, Joseph A. Church, R. Schnur +13 more
2017Nature Communications81 citations Open access
Semantic Scholar
Therapy of highly active pediatric multiple sclerosis
P. Huppke, B. Huppke, D. Ellenberger, K. Rostásy +4 more
2019Multiple Sclerosis78 citations Open access
Semantic Scholar
BROADENED AND ELEVATED HUMORAL IMMUNE RESPONSE TO EBNA1 IN PEDIATRIC MULTIPLE SCLEROSIS
J. Lünemann, P. Huppke, Susanne M. Roberts, W. Brück +2 more
2008Neurology78 citations Open access
Semantic Scholar
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)
B. Zirn, K. Grundmann, P. Huppke, J. Puthenparampil +3 more
2008Journal of Neurology Neurosurgery & Psychiatry76 citations
Semantic Scholar
T-cell homeostasis in pediatric multiple sclerosis
B. Balint, J. Haas, Alexander Schwarz, S. Jarius +11 more
2013Neurology72 citations
Semantic Scholar
Pregnancy outcomes in interferon-beta-exposed patients with multiple sclerosis: results from the European Interferon-beta Pregnancy Registry
K. Hellwig, Y. Geissbuehler, M. Sabidó, Catrinel Popescu +4 more
2020Journal of Neurology68 citations Open access
Semantic Scholar
Treatment of epilepsy in Rett syndrome.
P. Huppke, K. Köhler, K. Brockmann, G. Stettner +1 more
2007European journal of paediatric neurology61 citations
Semantic Scholar
Neuromyelitis optica and NMO-IgG in European pediatric patients
P. Huppke, M. Blüthner, O. Bauer, W. Stark +3 more
2010Neurology60 citations Open access
Semantic Scholar
Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia
P. Huppke, Eike Wegener, J. Gilley, C. Angeletti +10 more
2019bioRxiv57 citations Open access
Semantic Scholar
Spontaneous central apneas occur in the C57BL/6J mouse strain.
G. Stettner, S. Zanella, P. Huppke, J. Gärtner +2 more
2008Respiratory Physiology & Neurobiology57 citations
Semantic Scholar
Paediatric multiple sclerosis: The experience of the German Centre for Multiple Sclerosis in Childhood and Adolescence
W. Stark, P. Huppke, J. Gärtner
2008Journal of Neurology56 citations
Semantic Scholar
Chemokine-mediated redirection of T cells constitutes a critical mechanism of glucocorticoid therapy in autoimmune CNS responses
N. Schweingruber, H. Fischer, L. Fischer, J. V. D. van den Brandt +10 more
2014Acta Neuropathologica55 citations Open access
Semantic Scholar
Serum neurofilament light chain is a useful biomarker in pediatric multiple sclerosis
M. Reinert, P. Benkert, J. Wuerfel, Z. Michalak +10 more
2020Neurology: Neuroimmunology & Neuroinflammation50 citations Open access
Semantic Scholar
From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1.
M. Kettwig, M. Schubach, F. Zimmermann, L. Klinge +5 more
2015Mitochondrion (Amsterdam. Print)49 citations
Semantic Scholar
Suppression of Nonsense Mutations in Rett Syndrome by Aminoglycoside Antibiotics
C. Brendel, E. Klahold, J. Gärtner, P. Huppke
2009Pediatric Research44 citations Open access
Semantic Scholar
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
A. Pechmann, M. Behrens, Katharina Dörnbrack, A. Tassoni +206 more
2022Orphanet Journal of Rare Diseases40 citations Open access
Semantic Scholar
Therapeutic Apheresis in Pediatric Patients with Acute CNS Inflammatory Demyelinating Disease
M. Koziolek, John Muhlhausen, T. Friede, D. Ellenberger +5 more
2013Blood Purification40 citations Open access
Semantic Scholar
Consistent control of disease activity with fingolimod versus IFN β-1a in paediatric-onset multiple sclerosis: further insights from PARADIGMS
K. Deiva, P. Huppke, Brenda L. Banwell, T. Chitnis +6 more
2019Journal of Neurology Neurosurgery & Psychiatry39 citations Open access
Semantic Scholar
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase
P. Huppke, C. Brendel, G. Korenke, I. Marquardt +10 more
2012Human Mutation38 citations Open access
Semantic Scholar
Disturbances of breathing in Rett syndrome: results from patients and animal models.
G. Stettner, P. Huppke, J. Gärtner, D. Richter +1 more
2008Advances in Experimental Medicine and Biology37 citations
Semantic Scholar
Delayed-Release Dimethyl Fumarate Safety and Efficacy in Pediatric Patients With Relapsing-Remitting Multiple Sclerosis
R. Alroughani, P. Huppke, M. Mazurkiewicz-Bełdzińska, A. Blaschek +5 more
2021Frontiers in Neurology36 citations Open access
Semantic Scholar
Tectonic gene mutations in patients with Joubert syndrome
P. Huppke, Eike Wegener, Helena Böhrer-Rabel, H. Bolz +3 more
2014European Journal of Human Genetics36 citations Open access
Semantic Scholar
Fatigue and depression predict health-related quality of life in patients with pediatric-onset multiple sclerosis.
Karin Storm van's Gravesande, A. Blaschek, P. Calabrese, K. Rostásy +4 more
2019Multiple Sclerosis and Related Disorders35 citations
Semantic Scholar
Characterization of the MeCP2R168X Knockin Mouse Model for Rett Syndrome
Eike Wegener, C. Brendel, A. Fischer, S. Hülsmann +2 more
2014PLoS ONE35 citations Open access
Semantic Scholar
Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome.
F. Distelmaier, P. Huppke, P. Pieperhoff, K. Amunts +5 more
2013JIMD Reports34 citations Open access
Semantic Scholar
CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension
S. Syrbe, G. Stettner, Julien F. Bally, I. Borggraefe +15 more
2020Neurology32 citations
Semantic Scholar
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation
L. Peña-Quintana, G. Scherer, M. L. Curbelo-Estévez, F. Jiménez-Acosta +16 more
2017Clinical Genetics28 citations
Semantic Scholar
Apheresis in treatment of acute inflammatory demyelinating disorders.
John Muhlhausen, B. Kitze, P. Huppke, G. Müller +1 more
2015Atherosclerosis Supplements28 citations
Semantic Scholar
Failure of Pallidal Deep Brain Stimulation in a Case of Rapid‐Onset Dystonia Parkinsonism (DYT12)
C. Brücke, A. Horn, P. Huppke, A. Kupsch +2 more
2015Movement Disorders Clinical Practice26 citations Open access
Semantic Scholar
Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review
M. Kettwig, O. Elpeleg, Eike Wegener, S. Dreha-Kulaczewski +3 more
2016BMC Neurology23 citations Open access
Semantic Scholar
The Multiple Sclerosis Inventory of Cognition for Adolescents (MUSICADO): A brief screening instrument to assess cognitive dysfunction, fatigue and loss of health-related quality of life in pediatric-onset multiple sclerosis.
K. S. Gravesande, P. Calabrese, A. Blaschek, K. Rostásy +46 more
2019European journal of paediatric neurology22 citations Open access
Semantic Scholar
JC virus antibody status in a pediatric multiple sclerosis cohort: Prevalence, conversion rate and influence on disease severity
P. Huppke, H.-M. Hummel, D. Ellenberger, S. Pfeifenbring +4 more
2015Multiple Sclerosis21 citations
Semantic Scholar
Immunoglobulin therapy in idiopathic hypothalamic dysfunction.
P. Huppke, A. Heise, K. Rostásy, B. Huppke +1 more
2009Pediatric Neurology21 citations
Semantic Scholar
Effect of fingolimod on health-related quality of life in paediatric patients with multiple sclerosis: results from the phase 3 PARADIGMS Study
L. Krupp, B. Banwell, T. Chitnis, K. Deiva +7 more
2022BMJ Neurology Open18 citations Open access
Semantic Scholar
Age-Dependent Seroprevalence of JCV Antibody in Children
E. Hennes, B. Kornek, P. Huppke, M. Reindl +2 more
2015Neuropediatrics17 citations
Semantic Scholar
Pretreatment Neurofilament Light Chain Serum Levels, Early Disease Severity, and Treatment Response in Pediatric Multiple Sclerosis
B. Huppke, Marie-Christine Reinert, Hannah Hummel-Abmeier, W. Stark +2 more
2023Neurology13 citations Open access
Semantic Scholar
MRI-based diagnostic biomarkers for early onset pediatric multiple sclerosis
M. Weygandt, H.-M. Hummel, K. Schregel, K. Ritter +6 more
2014NeuroImage: Clinical13 citations Open access
Semantic Scholar

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