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Refinado por: assunto: Humans remover
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A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis
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A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis

Al-Saif, Amr ; Al-Mohanna, Futwan ; Bohlega, Saeed

Annals of neurology, 2011-12, Vol.70 (6), p.913-919 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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2
Loss of ERLIN2 function leads to juvenile primary lateral sclerosis
Loss of ERLIN2 function leads to juvenile primary lateral sclerosis
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Loss of ERLIN2 function leads to juvenile primary lateral sclerosis

Al-Saif, Amr ; Bohlega, Saeed ; Al-Mohanna, Futwan

Annals of neurology, 2012-10, Vol.72 (4), p.510-516 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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3
The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins
The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins
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The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins

Dreser, Alice ; Vollrath, Jan Tilmann ; Sechi, Antonio ; Johann, Sonja ; Roos, Andreas ; Yamoah, Alfred ; Katona, Istvan ; Bohlega, Saeed ; Wiemuth, Dominik ; Tian, Yuemin ; Schmidt, Axel ; Vervoorts, Jörg ; Dohmen, Marc ; Beyer, Cordian ; Anink, Jasper ; Aronica, Eleonora ; Troost, Dirk ; Weis, Joachim ; Goswami, Anand

Cell death and differentiation, 2017-10, Vol.24 (10), p.1655-1671 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Parkinson's Disease in Saudi Patients: A Genetic Study
Parkinson's Disease in Saudi Patients: A Genetic Study
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Parkinson's Disease in Saudi Patients: A Genetic Study

Al-Mubarak, Bashayer R ; Bohlega, Saeed A ; Alkhairallah, Thamer S ; Magrashi, Amna I ; AlTurki, Maha I ; Khalil, Dania S ; AlAbdulaziz, Basma S ; Abou Al-Shaar, Hussam ; Mustafa, Abeer E ; Alyemni, Eman A ; Alsaffar, Bashayer A ; Tahir, Asma I ; Al Tassan, Nada A Cookson, Mark R.

PloS one, 2015-08, Vol.10 (8), p.e0135950-e0135950 [Periódico revisado por pares]

United States: Public Library of Science

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5
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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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]

Pacini Editore srl

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7
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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8
Levodopa-Carbidopa Intestinal Gel Infusion Therapy in Advanced Parkinson's Disease: Single Middle Eastern Center Experience
Levodopa-Carbidopa Intestinal Gel Infusion Therapy in Advanced Parkinson's Disease: Single Middle Eastern Center Experience
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Levodopa-Carbidopa Intestinal Gel Infusion Therapy in Advanced Parkinson's Disease: Single Middle Eastern Center Experience

Bohlega, Saeed ; Abou Al-Shaar, Hussam ; Alkhairallah, Thamer ; Al-Ajlan, Fahad ; Hasan, Nael ; Alkahtani, Khalid

European neurology, 2015-01, Vol.74 (5-6), p.227-236 [Periódico revisado por pares]

Basel, Switzerland: S. Karger AG

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9
Intervening to reduce the risk of future disability from multiple sclerosis: are we there yet?
Intervening to reduce the risk of future disability from multiple sclerosis: are we there yet?
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Intervening to reduce the risk of future disability from multiple sclerosis: are we there yet?

Dahdaleh, Maurice ; Alroughani, Raed ; Aljumah, Mohammed ; AlTahan, Abdulrahman ; Alsharoqi, Issa ; Bohlega, Saeed A ; Daif, Abdulkader ; Deleu, Dirk ; Inshasi, Jihad ; Karabudak, Rana ; Sahraian, Mohammed A. ; Taha, Karim ; Yammout, Bassem I. ; Zakaria, Magd

International journal of neuroscience, 2017-10, Vol.127 (10), p.944-951 [Periódico revisado por pares]

England: Taylor & Francis

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10
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia
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Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia

Bohlega, Saeed A ; Shinwari, Jameela M ; Al Sharif, Latifa J ; Khalil, Dania S ; Alkhairallah, Thamer S ; Al Tassan, Nada A

BMC medical genetics, 2011-02, Vol.12 (1), p.27-27, Article 27 [Periódico revisado por pares]

England: BioMed Central Ltd

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