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masculin

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man ;men ;mâle homme

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Article

Internal medicine (Tokyo, Japan) Duchenne Muscular Dystrophy Successfully Treated with Aripiprazole in a Patient with Autism Spectrum Disorder Symptoms Including Irritability

Noda S ; Murakami A ; Kimura S ; Minamiyama M ; Katsuno M ; Kuru S | Japan | 19/06/2021

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Neuromuscular disorders : NMD Intracranial hemorrhage secondary to vitamin K deficiency in X-linked myotubular myopathy

Neese JM ; Yum S ; Matesanz S ; Raffini LJ ; Whitworth HB ; Loomes KM ; Mayer OH ; Alcamo AM | England | 11/05/2021

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Biomedicines, 9, 5. Role of RNA in Molecular Diagnosis of MADD Patients

Nogueira C ; Silva L ; Marcão A ; Sousa C ; Fonseca H ; Rocha H ; Campos T ; Teles EL ; Rodrigues E ; Janeiro P ; Gaspar A ; Vilarinho L | 04/05/2021

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European journal of neurology Adult-onset Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)

Fatehi F ; Okhovat AA ; Nilipour Y ; Mroczek M ; Straub V ; Töpf A ; Palibrk A ; Peric S ; Rakocevic Stojanovic V ; Najmabadi H ; Nafissi S | England | 06/2020

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Journal of clinical neuromuscular disease, 21, 4. Congenital Ophthalmoplegia and Late-Onset Limb Weakness Caused by MUSK Mutations

Ostos F ; Alcantara Miranda P ; Hernandez-Lain A ; Dominguez-Gonzalez C | United States | 06/2020

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Journal of Neuromuscular Diseases A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP

Benquey T ; Fockens E ; Kouton L ; Delmont E ; Martini N ; Lévy N ; Attarian S ; Bonello-Palot N | Netherlands | 06/2020

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Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology Pediatric anti-HMGCR necrotizing myopathy: diagnostic challenges and literature review

Velardo D ; Faravelli I ; Cinnante C ; Moggio M ; Comi GP | Italy | 06/2020

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Article

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy

Rodolico C ; Politano L ; Portaro S ; Murru S ; Boccone L ; Sera F ; Passamano L ; Brizzi T ; Tupler R | England | 05/2020

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Journal of the peripheral nervous system : JPNS Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2

Geroldi A ; Prada V ; Veneri F ; Trevisan L ; Origone P ; Grandis M ; Schenone A ; Gemelli C ; Lanteri P ; Fossa P ; Mandich P ; Bellone E | United States | 04/2020

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Neuromuscular disorders : NMD Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism

Keller N ; Mendoza-Ferreira N ; Maroofian R ; Chelban V ; Khalil Y ; Mills PB ; Boostani R ; Torbati PN ; Karimiani EG ; Thiele H ; Houlden H ; Wirth B ; Karakaya M | England | 04/2020

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BMC Medical Genetics, 21, 1. Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease

Grosse GM ; Bauer C ; Kopp B ; Schrader C ; Osmanovic A | 03/2020

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Article

Neuropathology : official journal of the Japanese Society of Neuropathology A novel homozygous variant of RYR1 p.Ala3072Asp in a neonate with dusty core disease: A new entity with clinicopathological implications

Gaspar BL | Australia | 03/2020

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Article

Pediatric neurology Dilated Cerebral Arteriopathy in Classical Pompe Disease: A Novel Finding

Viamonte M ; Tuna I ; Rees J | United States | 03/2020

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Annals of the Academy of Medicine, Singapore, 49, 2. Perspectives on Palliative Care Among Duchenne Muscular Dystrophy Patients and Their Families in Singapore

Tapawan SJC ; Wang FS ; Lee MW ; Chua AQ ; Lin JB ; Han V ; Lim MT ; Ong HT ; Tay SK | Singapore | 02/2020

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Article

Clinical neurophysiology practice, 5. Botulinum toxin injections associated with suspected myasthenia gravis: An underappreciated cause of MG-like clinical presentation

Punga AR ; Liik M | Netherlands | 02/2020

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Article

European journal of neurology The clinical spectrum of BICD2 mutations

Frasquet M ; Camacho A ; Vilchez R ; Argente-Escrig H ; Millet E ; Vazquez-Costa JF ; Silla R ; Sánchez-Monteagudo A ; Vilchez JJ ; Espinos C ; Lupo V ; Sevilla T | England | 02/2020

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Frontiers in neurology, 11. Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII)

Simila ME ; Auranen M ; Piirila PL | 02/2020

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Article

Frontiers in pediatrics, 8. A Pathogenic Missense Variant (c.1617G>A, p.Met539Ile) in UBA1 Causing Infantile X-Linked Spinal Muscular Atrophy (SMAX2)

Wang XH ; Zhang LM ; Yang X ; Zhou SZ | 02/2020

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Article

Journal of pediatric endocrinology & metabolism : JPEM Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families

Ullah A ; Zubaida B ; Cheema HA ; Naeem M | Germany | 02/2020

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Article

Ophthalmic genetics, 41, 1. Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms

Vaclavik V ; Naderi F ; Schaller A ; Escher P | England | 02/2020

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Article

Basic & clinical pharmacology & toxicology Fatal liver failure after therapeutic doses of paracetamol in a patient with Duchenne muscular dystrophy and atypical pharmacogenetic profile of drug-metabolizing enzymes

Lao YE ; Molden E ; Kringen MK ; Annexstad EJ ; Saeverud HA ; Jacobsen D ; Hovda KE | England | 01/2020

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Article

Disease models & mechanisms, 13, 2. Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy

Fernandes SA ; Almeida CF ; Souza LS ; Lazar M ; Onofre-Oliveira P ; Yamamoto GL ; Nogueira L ; Tasaki LY ; Cardoso RR ; Pavanello RCM ; Silva HCA ; Ferrari MFR ; Bigot A ; Mouly V ; Vainzof M | 2020

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Article

Frontiers in neurology, 10. Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy

Kang L ; Liu Y ; Jin Y ; Li M ; Song J ; Zhang Y ; Zhang Y ; Yang Y | Switzerland | 01/2020

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Article

Genes, 11, 2. Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures

Landires I ; Nunez-Samudio V ; Fernandez J ; Sarria C ; Villareal V ; Cordoba F ; Apraez-Ippolito G ; Martinez S ; Vidal OM ; Velez JI ; Arcos-Holzinger M ; Landires S ; Arcos-Burgos M | Switzerland | 01/2020

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Article

IEEE Transactions on neural systems and rehabilitation engineering, 28, 1. A Case Study With Symbihand: An sEMG-Controlled Electrohydraulic Hand Orthosis for Individuals With Duchenne Muscular Dystrophy

Bos RA ; Nizamis K ; Koopman BFJM ; Herder JL ; Sartori M ; Plettenburg DH | United States | 01/2020

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masculin

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Documents disponibles dans cette catégorie (1921)

Internal medicine (Tokyo, Japan) Duchenne Muscular Dystrophy Successfully Treated with Aripiprazole in a Patient with Autism Spectrum Disorder Symptoms Including Irritability

Neuromuscular disorders : NMD Intracranial hemorrhage secondary to vitamin K deficiency in X-linked myotubular myopathy

Biomedicines, 9, 5. Role of RNA in Molecular Diagnosis of MADD Patients

European journal of neurology Adult-onset Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)

Journal of clinical neuromuscular disease, 21, 4. Congenital Ophthalmoplegia and Late-Onset Limb Weakness Caused by MUSK Mutations

Journal of Neuromuscular Diseases A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology Pediatric anti-HMGCR necrotizing myopathy: diagnostic challenges and literature review

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy

Journal of the peripheral nervous system : JPNS Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2

Neuromuscular disorders : NMD Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism

BMC Medical Genetics, 21, 1. Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease

Neuropathology : official journal of the Japanese Society of Neuropathology A novel homozygous variant of RYR1 p.Ala3072Asp in a neonate with dusty core disease: A new entity with clinicopathological implications

Pediatric neurology Dilated Cerebral Arteriopathy in Classical Pompe Disease: A Novel Finding

Annals of the Academy of Medicine, Singapore, 49, 2. Perspectives on Palliative Care Among Duchenne Muscular Dystrophy Patients and Their Families in Singapore

Clinical neurophysiology practice, 5. Botulinum toxin injections associated with suspected myasthenia gravis: An underappreciated cause of MG-like clinical presentation

European journal of neurology The clinical spectrum of BICD2 mutations

Frontiers in neurology, 11. Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII)

Frontiers in pediatrics, 8. A Pathogenic Missense Variant (c.1617G>A, p.Met539Ile) in UBA1 Causing Infantile X-Linked Spinal Muscular Atrophy (SMAX2)

Journal of pediatric endocrinology & metabolism : JPEM Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families

Ophthalmic genetics, 41, 1. Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms

Basic & clinical pharmacology & toxicology Fatal liver failure after therapeutic doses of paracetamol in a patient with Duchenne muscular dystrophy and atypical pharmacogenetic profile of drug-metabolizing enzymes

Disease models & mechanisms, 13, 2. Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy

Frontiers in neurology, 10. Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy

Genes, 11, 2. Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures

IEEE Transactions on neural systems and rehabilitation engineering, 28, 1. A Case Study With Symbihand: An sEMG-Controlled Electrohydraulic Hand Orthosis for Individuals With Duchenne Muscular Dystrophy