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Refinado por: Base de dados/Biblioteca: Elsevier ScienceDirect Journals remover assunto: Neurology remover
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Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders
Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders
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Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders

Bohlega, Saeed A. ; Abou-Al-Shaar, Hussam ; AlDakheel, Amaal ; Alajlan, Huda ; Bohlega, Balsam S. ; Meyer, Brian F. ; Monies, Dorota ; Cupler, Edward J. ; Al-Saif, Amr M.

Parkinsonism & related disorders, 2019-07, Vol.64, p.145-149 [Periódico revisado por pares]

England: Elsevier Ltd

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2
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome
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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

Neuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.353-359 [Periódico revisado por pares]

England: Elsevier B.V

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3
Functional clinical outcomes in multiple sclerosis: Current status and future prospects
Functional clinical outcomes in multiple sclerosis: Current status and future prospects
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Functional clinical outcomes in multiple sclerosis: Current status and future prospects

Karabudak, Rana ; Dahdaleh, Maurice ; Aljumah, Mohammed ; Alroughani, Raed ; Alsharoqi, I. Ahmed ; AlTahan, Abdulrahman M ; Bohlega, Saeed A ; Daif, Abdulkader ; Deleu, Dirk ; Amous, Amer ; Inshasi, Jihad S ; Rieckmann, Peter ; Sahraian, Mohammed A ; Yamout, Bassem I

Multiple sclerosis and related disorders, 2015-05, Vol.4 (3), p.192-201

Netherlands: Elsevier B.V

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4
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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5
Epidemiology of MS
Epidemiology of MS
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Epidemiology of MS

Bohlega, Saeed

Multiple sclerosis and related disorders, 2014-11, Vol.3 (6), p.766-767

Elsevier B.V

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6
Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features
Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features
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Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features

Cupler, Edward J ; Bohlega, Saeed ; Hessler, Richard ; McLean, Donald ; Stigsby, Bent ; Ahmad, Javed

Neuromuscular disorders : NMD, 1998-06, Vol.8 (5), p.321-326 [Periódico revisado por pares]

England: Elsevier B.V

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7
Autosomal Recessive Juvenile Parkinsonism Maps to 6q25.2-q27 in Four Ethnic Groups: Detailed Genetic Mapping of the Linked Region
Autosomal Recessive Juvenile Parkinsonism Maps to 6q25.2-q27 in Four Ethnic Groups: Detailed Genetic Mapping of the Linked Region
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Autosomal Recessive Juvenile Parkinsonism Maps to 6q25.2-q27 in Four Ethnic Groups: Detailed Genetic Mapping of the Linked Region

Jones, Alison C. ; Yamamura, Yasuhiro ; Almasy, Laura ; Bohlega, Saeed ; Elibol, Bülent ; Hubble, Jean ; Kuzuhara, Shigeki ; Uchida, Masao ; Yanagi, Tsutomu ; Weeks, Daniel E. ; Nygaard, Torbjoern G.

American journal of human genetics, 1998-07, Vol.63 (1), p.80-87 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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8
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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