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论文共 40 篇作者统计合作学者相似作者

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TRAPPC6B Biallelic Variants are Associated with TRAPP II-Specific Defects and Cause Neurodevelopmental Disorder and Microcephaly in Humans
H. Almousa, S. Lewis,R. Maroofian, M. Kreuer, M. Sacher
MOLECULAR BIOLOGY OF THE CELLno. 2 (2023): 625-625
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A relatively common cause of hereditary motor neuropathy due to a founder mutation in VWA1
S. Nagy, A. Pagnamenta,R. Maroofian,H. Houlden
EUROPEAN JOURNAL OF NEUROLOGY (2023): 657-657
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Biallelic variants in ARHGAP19 cause mixed demyelinating and axonal polyneuropathy
S. Efthymiou,N. Dominik, X. Miao, C. Record,R. Maroofian, G. Aughrey, M. Motazacker, C. Armirola-Ricaurte,V. Lupo, T. Sevilla, N. Basak, S. Gungor, B. Aynekin, H. Per L. Van de Vondel, E. Karimiani,S. Zuchner, H. Topaloglu, A. Jordanova,R. Horvath,T. B. Haack,M. Reilly, J. Jepson, N. Lamarche-Vane,H. Houlden
EUROPEAN JOURNAL OF NEUROLOGY (2023): 555-555
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Expanding the clinical and phenotypic spectrum of CHD2-associated early onset epileptic developmental encephalopathy
A. Hwang, S. Stefani, T. Lau,M. Scala, B. Aynekin,P. Bernardo,F. Madia,S. Bakhtadze,R. Kaiyrzhanov,R. Maroofian,F. Zara, V. M. Srinivasan,V. K. Gowda, G. Alexandrou,U. Guliyeva,A. Montavont, G. Alexandrou,U. Guliyeva,A. Montavont, A-L Poulat, C. Berger,D. Ville,J. de Bellescize,G. Lesca, H. Per,P. Striano,M. Severino, A. Ioannides,H. Houlden, P. Nicolaides,S. Efthymiou
EPILEPSIA (2023): 369-370
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Altered Nt-acetylation Processes, a New Disease-Mechanism for Autosomal Recessive Primary Familial Brain Calcifications
V. Chelban,H. Aksnes, L. LaMonica, L. Seabra, P. Devic,R. Maroofian,J. Vandrovcova, D. Murphy,S. Efthymiou, A. Pagnamenta, A. Pennavaria, L. Krogstad, K. Bronstad,N. Glomnes,J. Battini,N. Wood,R. Horvath, A. Ernst,J. Rothman,M. McEntagart,Y. Crow, G. Nicolas,T. Arnesen,H. Houlden
EUROPEAN JOURNAL OF NEUROLOGY (2023): 63-64
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作者统计

#Papers: 40

#Citation: 72

H-Index: 5

G-Index: 6

Sociability: 6

Diversity: 1

Activity: 10

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