Al Muhaizea, M.: search on Z-Library

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1

A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature

Al-Muhaizea, Mohammad A., AlMutairi, Faten, Almass, Rawan, AlHarthi, Safinaz, Aldosary, Mazhor S., Alsagob, Maysoon, AlOdaib, Ali, Colak, Dilek, Kaya, Namik

Journal:

Year:

2017

Language:

english

File:

PDF, 3.81 MB

english, 2017

2

The natural history of infantile neuroaxonal dystrophy

Altuame, Fadie D., Foskett, Gretchen, Atwal, Paldeep S., Endemann, Sarah, Midei, Mark, Milner, Peter, Salih, Mustafa A., Hamad, Muddathir, Al-Muhaizea, Mohammad, Hashem, Mais, Alkuraya, Fowzan S.

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 993 KB

2020

3

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

Guo, Hui, Zhang, Qiumeng, Dai, Rujia, Yu, Bin, Hoekzema, Kendra, Tan, Jieqiong, Tan, Senwei, Jia, Xiangbin, Chung, Wendy K., Hernan, Rebecca, Alkuraya, Fowzan S., Alsulaiman, Ahood, Al-Muhaizea, Moham

Journal:

The American Journal of Human Genetics

Year:

2020

File:

PDF, 625 KB

2020

4

Vici syndrome associated with unilateral lung hypoplasia and myopathy

Mohammed Al-Owain, Amal Al-Hashem, Mohammed Al-Muhaizea, Hani Humaidan, Hindi Al-Hindi, Iftetah Al-Homoud, Ibrahim Al-Mogarri

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 279 KB

english, 2010

5

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance

M Al-Owain, N Kaya, H Al-Zaidan, N Al-Hashmi, A Al-Bakheet, M Al-Muhaizea, A Chedrawi, RK Basran, A Milunsky

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 673 KB

english, 2011

6

Novel V97G ASAH1 mutation found in Farber disease patients: Unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system

Aziza K. Chedrawi, Zuhair N. Al-Hassnan, Muhammad Al-Muhaizea, Dilek Colak, Banan Al-Younes, AlBandary Albakheet, Sahar Tulba, Namik Kaya

Journal:

Brain and Development

Year:

2012

Language:

english

File:

PDF, 607 KB

english, 2012

7

G.P.17.04 Muscle biopsy as a diagnostic tool in neonates

M.A. Al-Muhaizea, H.N. Al-Hindi, H.A. Al-dhalaan, A.K. Chedrawi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 38 KB

english, 2009

8

P2.29 Autosomal recessive limb girdle muscular dystrophy in Saudi Arabia

M.A. Al-Muhaizea, S. Bohlega, I. Al Homoud, D.M. Monies, S. Majid, A. Al Azami, D. Jaroudi, B. Bas, B.F. Meyer, H.N. Al Hindi

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 49 KB

english, 2011

9

Variant Late Infantile Neuronal Ceroid Lipofuscinosis (CLN6 Gene) in Saudi Arabia

Mohammad A. Al-Muhaizea, Zuhair N. Al-Hassnan, Aziza Chedrawi

Journal:

Pediatric Neurology

Year:

2009

Language:

english

File:

PDF, 71 KB

english, 2009

10

Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

Monies, Dorota M., Al-Hindi, Hindi N., Al-Muhaizea, Mohamed A., Jaroudi, Dyala J., Al-Younes, Banan, Naim, Ewa A., Wakil, Salma M., Meyer, Brian F., Bohlega, Saeed

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 1.25 MB

english, 2014

11

Novel FGD1 mutation underlying Aarskog–Scott syndrome with myopathy and distal arthropathy

Al-Semari, Abdulaziz, Wakil, Salma M., Al-Muhaizea, Mohammad A., Dababo, Mohammed, Al-Amr, Rana, Alkuraya, Fowzan, Meyer, Brian F.

Journal:

Clinical Dysmorphology

Year:

2013

Language:

english

File:

PDF, 440 KB

english, 2013

12

Feeding and speech difficulties in typical congenital Nemaline Myopathy

Bagnall, Annie K., Al-Muhaizea, Mohammad A., Manzur, Adnan Y.

Journal:

International Journal of Speech-Language Pathology

Year:

2006

Language:

english

File:

PDF, 268 KB

english, 2006

13

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Monies, Dorota, Abouelhoda, Mohamed, AlSayed, Moeenaldeen, Alhassnan, Zuhair, Alotaibi, Maha, Kayyali, Husam, Al-Owain, Mohammed, Shah, Ayaz, Rahbeeni, Zuhair, Al-Muhaizea, Mohammad A., Alzaidan, Hama

Journal:

Year:

2017

Language:

english

File:

PDF, 545 KB

english, 2017

14

COLQ-mutant congenital myasthenic syndrome with microcephaly: A unique case with literature review

Al-Mobarak, Sulaiman Bazee, Al-Muhaizea, Mohammad A.

Journal:

Translational Neuroscience

Language:

english

File:

PDF, 90 KB

english

15

Carbon nanofiber-based multiplexed immunosensor for the detection of survival motor neuron 1, cystic fibrosis transmembrane conductance regulator and Duchenne Muscular Dystrophy proteins

Eissa, Shimaa, Alshehri, Nawal, Abduljabbar, Mai, Rahman, Anas M. Abdel, Dasouki, Majed, Nizami, Imran Y., Al-Muhaizea, Mohammad A., Zourob, Mohammed

Journal:

Biosensors and Bioelectronics

Year:

2018

Language:

english

File:

PDF, 855 KB

english, 2018

16

Autozygome and high throughput confirmation of disease genes candidacy

Maddirevula, Sateesh, Alzahrani, Fatema, Al-Owain, Mohammed, Al Muhaizea, Mohammad A., Kayyali, Husam R., AlHashem, Amal, Rahbeeni, Zuhair, Al-Otaibi, Maha, Alzaidan, Hamad I., Balobaid, Ameera, El Kh

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 1.62 MB

english, 2018

17

SMA THERAPIES II AND BIOMARKERS

Bertini, E., Day, J., Al Muhaizea, M., Xiong, H., Servais, L., Prufer, A., Buchbjerg, J., Armstrong, G., Gorni, K., Khwaja, O.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 113 KB

english, 2018

18

Current management of Duchenne muscular dystrophy in the Middle East: expert report

Jumah, Mohammed Al, Muhaizea, Mohammad Al, Rumayyan, Ahmed Al, Saman, Abdulaziz Al, Shehri, Ali Al, Cupler, Edward, Jan, Mohammed, Madani, Abubaker Al, Fathalla, Waseem, Kashyape, Pawan, Kodavooru, Gu

Journal:

Neurodegenerative Disease Management

Year:

2019

Language:

english

File:

PDF, 1.27 MB

english, 2019

19

Beyond a routine blood gas, an easily picked but missed diagnosis of chronic Encephalopathy

AlFaris, Haya S., Elhissi, Ghasan, Chedrawi, Aziza, Al-Muhaizea, Mohammad A.

Journal:

International Journal of Pediatrics and Adolescent Medicine

Year:

2020

File:

PDF, 481 KB

2020

20

SMA â THERAPY

Servais, L., Bertini, E., Al-Muhaizea, M., Nelson, L., Prufer, A., Vlodavets, D., Wang, Y., Zanoteli, E., Burke, L., El-Khairi, M., Gorni, K., Kletzl, H., Gerber, M., Scalco, R., Finkel, R.

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 60 KB

2020