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Dissecting the Phenotype and Genotype of PLA2G6‐Related Parkinsonism
Dissecting the Phenotype and Genotype of PLA2G6‐Related Parkinsonism
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Dissecting the Phenotype and Genotype of PLA2G6‐Related Parkinsonism

Magrinelli, Francesca ; Mehta, Sahil ; Di Lazzaro, Giulia ; Latorre, Anna ; Edwards, Mark J. ; Balint, Bettina ; Basu, Purba ; Kobylecki, Christopher ; Groppa, Sergiu ; Hegde, Anaita ; Mulroy, Eoin ; Estevez‐Fraga, Carlos ; Arora, Anshita ; Kumar, Hrishikesh ; Schneider, Susanne A. ; Lewis, Patrick A. ; Jaunmuktane, Zane ; Revesz, Tamas ; Gandhi, Sonia ; Wood, Nicholas W. ; Hardy, John A. ; Tinazzi, Michele ; Lal, Vivek ; Houlden, Henry ; Bhatia, Kailash P.

Movement disorders, 2022-01, Vol.37 (1), p.148-161 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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2
Mutations in the J domain of DNAJB6 cause dominant distal myopathy
Mutations in the J domain of DNAJB6 cause dominant distal myopathy
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Mutations in the J domain of DNAJB6 cause dominant distal myopathy

Palmio, Johanna ; Jonson, Per Harald ; Inoue, Michio ; Sarparanta, Jaakko ; Bengoechea, Rocio ; Savarese, Marco ; Vihola, Anna ; Jokela, Manu ; Nakagawa, Masanori ; Noguchi, Satoru ; Olivé, Montse ; Masingue, Marion ; Kerty, Emilia ; Hackman, Peter ; Weihl, Conrad C. ; Nishino, Ichizo ; Udd, Bjarne

Neuromuscular disorders : NMD, 2020-01, Vol.30 (1), p.38-46 [Periódico revisado por pares]

England: Elsevier B.V

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3
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
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Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia

Wakil, Salma M ; Alhissi, Safa ; Al Dossari, Haya ; Alqahtani, Ayesha ; Shibin, Sherin ; Melaiki, Brahim T ; Finsterer, Josef ; Al-Hashem, Amal ; Bohlega, Saeed ; Alazami, Anas M

BMC medical genetics, 2019-07, Vol.20 (1), p.119-119, Article 119 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
Genomic and phenotypic delineation of congenital microcephaly
Genomic and phenotypic delineation of congenital microcephaly
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Genomic and phenotypic delineation of congenital microcephaly

Shaheen, Ranad ; Maddirevula, Sateesh ; Ewida, Nour ; Alsahli, Saud ; Abdel-Salam, Ghada M H ; Zaki, Maha S ; Tala, Saeed Al ; Alhashem, Amal ; Softah, Ameen ; Al-Owain, Mohammed ; Alazami, Anas M ; Abadel, Basma ; Patel, Nisha ; Al-Sheddi, Tarfa ; Alomar, Rana ; Alobeid, Eman ; Ibrahim, Niema ; Hashem, Mais ; Abdulwahab, Firdous ; Hamad, Muddathir ; Tabarki, Brahim ; Alwadei, Ali H ; Alhazzani, Fahad ; Bashiri, Fahad A ; Kentab, Amal ; Şahintürk, Serdar ; Sherr, Elliott ; Fregeau, Brieana ; Sogati, Samira ; Alshahwan, Saad Ali M ; Alkhalifi, Salwa ; Alhumaidi, Zainab ; Temtamy, Samia ; Aglan, Mona ; Otaify, Ghada ; Girisha, Katta M ; Tulbah, Maha ; Seidahmed, Mohammed Zain ; Salih, Mustafa A ; Abouelhoda, Mohamed ; Momin, Afaque A ; Saffar, Muna Al ; Partlow, Jennifer N ; Arold, Stefan T ; Faqeih, Eissa ; Walsh, Christopher ; Alkuraya, Fowzan S

Genetics in medicine, 2019-03, Vol.21 (3), p.545-552 [Periódico revisado por pares]

United States: Elsevier Limited

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5
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families
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Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families

Li, Shan ; You, Yi ; Gao, Jinsong ; Mao, Bin ; Cao, Yixuan ; Zhao, Xiuli ; Zhang, Xue

BMC medical genetics, 2018-10, Vol.19 (1), p.179-179, Article 179 [Periódico revisado por pares]

England: BioMed Central Ltd

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6
LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation
LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation
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LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation

Bohlega, Saeed A ; Alfawaz, Sarah ; Abou-Al-Shaar, Hussam ; Al-Hindi, Hindi N ; Murad, Hatem N ; Bohlega, Mohamed S ; Meyer, Brian F ; Monies, Dorota

Acta myologica, 2018-09, Vol.37 (3), p.221-226 [Periódico revisado por pares]

Italy: Pacini Editore srl

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7
Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family
Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family
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Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family

Al-Shaar, Hussam Abou ; Qadi, Najeeb ; Ahmed, Mohammed ; Meyer, Brian F ; Bohlega, Saeed

Journal of the neurological sciences, 2016-08, Vol.367, p.239-243 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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8
Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families
Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families
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Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

Bohlega, Saeed A ; Al-Mubarak, Bashayer R ; Alyemni, Eman A ; Abouelhoda, Mohamed ; Monies, Dorota ; Mustafa, Abeer E ; Khalil, Dania S ; Al Haibi, Sara ; Abou Al-Shaar, Hussam ; Faquih, Tariq ; El-Kalioby, Mohamed ; Tahir, Asma I ; Al Tassan, Nada A

BMC research notes, 2016-06, Vol.9 (1), p.295-295, Article 295 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
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Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

Alazami, Anas M. ; Patel, Nisha ; Shamseldin, Hanan E. ; Anazi, Shamsa ; Al-Dosari, Mohammed S. ; Alzahrani, Fatema ; Hijazi, Hadia ; Alshammari, Muneera ; Aldahmesh, Mohammed A. ; Salih, Mustafa A. ; Faqeih, Eissa ; Alhashem, Amal ; Bashiri, Fahad A. ; Al-Owain, Mohammed ; Kentab, Amal Y. ; Sogaty, Sameera ; Al Tala, Saeed ; Temsah, Mohamad-Hani ; Tulbah, Maha ; Aljelaify, Rasha F. ; Alshahwan, Saad A. ; Seidahmed, Mohammed Zain ; Alhadid, Adnan A. ; Aldhalaan, Hesham ; AlQallaf, Fatema ; Kurdi, Wesam ; Alfadhel, Majid ; Babay, Zainab ; Alsogheer, Mohammad ; Kaya, Namik ; Al-Hassnan, Zuhair N. ; Abdel-Salam, Ghada M.H. ; Al-Sannaa, Nouriya ; Al Mutairi, Fuad ; El Khashab, Heba Y. ; Bohlega, Saeed ; Jia, Xiaofei ; Nguyen, Henry C. ; Hammami, Rakad ; Adly, Nouran ; Mohamed, Jawahir Y. ; Abdulwahab, Firdous ; Ibrahim, Niema ; Naim, Ewa A. ; Al-Younes, Banan ; Meyer, Brian F. ; Hashem, Mais ; Shaheen, Ranad ; Xiong, Yong ; Abouelhoda, Mohamed ; Aldeeri, Abdulrahman A. ; Monies, Dorota M. ; Alkuraya, Fowzan S.

Cell reports (Cambridge), 2015-01, Vol.10 (2), p.148-161 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues
Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues
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Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues

Bohlega, Saeed ; Al-Ajlan, Huda ; Al-Saif, Amr

European journal of human genetics : EJHG, 2014-05, Vol.22 (5), p.640-643 [Periódico revisado por pares]

England: Nature Publishing Group

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